10-78704773-CAGAGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78704773
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78704767
    reference: chr 10
allele count: 2
allele frequency: 2.589399000491986e-5
allele num: 77238
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13817
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5972
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14663
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11458
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4988
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6532
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5194
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
reference allele: CAGAGAG
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

10-78708875-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708875
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708875
    reference: chr 10
allele count: 4
allele frequency: 3.309066843150232e-5
allele num: 120880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2346+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2718+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2709+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2387+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.209-27A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2535+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2658+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.158-27A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1657+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2514+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28493A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2535+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9334A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2631+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2455+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2535+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2721+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2709+25T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9334A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2130+25T>C
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

10-78708888-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708888
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708888
    reference: chr 10
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2658+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2535+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2718+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2709+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28480C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2721+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2455+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9347C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.209-14C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2535+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2631+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2514+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2346+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9347C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2130+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2387+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1657+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2535+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2709+12G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.158-14C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

10-78708902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708902
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708902
    reference: chr 10
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2453C>T
  hgvsp: ENSP00000361498.5:p.Pro819Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2719C>T
  hgvsp: ENSP00000385552.3:p.Pro907Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2629C>T
  hgvsp: ENSP00000396608.1:p.Pro877Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.209G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2344C>T
  hgvsp: ENSP00000361485.2:p.Pro782Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2656C>T
  hgvsp: ENSP00000385806.1:p.Pro886Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28466G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2512C>T
  hgvsp: ENSP00000361514.1:p.Pro838Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2707C>T
  hgvsp: ENSP00000286628.8:p.Pro903Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2533C>T
  hgvsp: ENSP00000361517.1:p.Pro845Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2533C>T
  hgvsp: ENSP00000286627.5:p.Pro845Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1655C>T
  hgvsp: ENSP00000402150.1:p.Pro553Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.158G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9361G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2707C>T
  hgvsp: ENSP00000385717.3:p.Pro903Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2385C>T
  hgvsp: ENSP00000361480.3:p.Pro796Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2716C>T
  hgvsp: ENSP00000346321.5:p.Pro906Ser
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2128C>T
  hgvsp: ENSP00000473714.1:p.Pro710Ser
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro886Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/10-78708903-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708903
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708903
    reference: chr 10
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2532G>T
  hgvsp: ENSP00000361517.1:p.Leu844Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2718G>T
  hgvsp: ENSP00000385552.3:p.Leu906Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2655G>T
  hgvsp: ENSP00000385806.1:p.Leu885Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2706G>T
  hgvsp: ENSP00000385717.3:p.Leu902Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2628G>T
  hgvsp: ENSP00000396608.1:p.Leu876Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2127G>T
  hgvsp: ENSP00000473714.1:p.Leu709Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2532G>T
  hgvsp: ENSP00000361520.1:p.Leu844Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2343G>T
  hgvsp: ENSP00000361485.2:p.Leu781Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9362C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1654G>T
  hgvsp: ENSP00000402150.1:p.Leu552Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2706G>T
  hgvsp: ENSP00000286628.8:p.Leu902Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2452G>T
  hgvsp: ENSP00000361498.5:p.Leu818Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2511G>T
  hgvsp: ENSP00000361514.1:p.Leu837Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2384G>T
  hgvsp: ENSP00000361480.3:p.Leu795Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2532G>T
  hgvsp: ENSP00000286627.5:p.Leu844Phe
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9362C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28465C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.159C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.210C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2715G>T
  hgvsp: ENSP00000346321.5:p.Leu905Phe
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu885Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

10-78708908-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708908
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708908
    reference: chr 10
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2338A>C
  hgvsp: ENSP00000361485.2:p.Ile780Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1649A>C
  hgvsp: ENSP00000402150.1:p.Ile551Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2122A>C
  hgvsp: ENSP00000473714.1:p.Ile708Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2527A>C
  hgvsp: ENSP00000361517.1:p.Ile843Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2506A>C
  hgvsp: ENSP00000361514.1:p.Ile836Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2527A>C
  hgvsp: ENSP00000286627.5:p.Ile843Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.164T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2527A>C
  hgvsp: ENSP00000361520.1:p.Ile843Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28460T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2713A>C
  hgvsp: ENSP00000385552.3:p.Ile905Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2447A>C
  hgvsp: ENSP00000361498.5:p.Ile817Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2701A>C
  hgvsp: ENSP00000385717.3:p.Ile901Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2379A>C
  hgvsp: ENSP00000361480.3:p.Ile794Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9367T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2710A>C
  hgvsp: ENSP00000346321.5:p.Ile904Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9367T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.215T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2701A>C
  hgvsp: ENSP00000286628.8:p.Ile901Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2623A>C
  hgvsp: ENSP00000396608.1:p.Ile875Leu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2650A>C
  hgvsp: ENSP00000385806.1:p.Ile884Leu
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile884Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

10-78708916-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708916
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708916
    reference: chr 10
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9375T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2439A>T
  hgvsp: ENSP00000361498.5:p.Lys814Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2330A>T
  hgvsp: ENSP00000361485.2:p.Lys777Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9375T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.172T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2519A>T
  hgvsp: ENSP00000361520.1:p.Lys840Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2114A>T
  hgvsp: ENSP00000473714.1:p.Lys705Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2693A>T
  hgvsp: ENSP00000385717.3:p.Lys898Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2693A>T
  hgvsp: ENSP00000286628.8:p.Lys898Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1641A>T
  hgvsp: ENSP00000402150.1:p.Lys548Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2519A>T
  hgvsp: ENSP00000361517.1:p.Lys840Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.223T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2519A>T
  hgvsp: ENSP00000286627.5:p.Lys840Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2705A>T
  hgvsp: ENSP00000385552.3:p.Lys902Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2371A>T
  hgvsp: ENSP00000361480.3:p.Lys791Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2498A>T
  hgvsp: ENSP00000361514.1:p.Lys833Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2615A>T
  hgvsp: ENSP00000396608.1:p.Lys872Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2702A>T
  hgvsp: ENSP00000346321.5:p.Lys901Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28452T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2642A>T
  hgvsp: ENSP00000385806.1:p.Lys881Ile
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys881Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

10-78708916-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708916
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708916
    reference: chr 10
allele count: 42
allele frequency: 3.46860908775581e-4
allele num: 121086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.223T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2330A>G
  hgvsp: ENSP00000361485.2:p.Lys777Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2519A>G
  hgvsp: ENSP00000361517.1:p.Lys840Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2439A>G
  hgvsp: ENSP00000361498.5:p.Lys814Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2615A>G
  hgvsp: ENSP00000396608.1:p.Lys872Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2371A>G
  hgvsp: ENSP00000361480.3:p.Lys791Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2498A>G
  hgvsp: ENSP00000361514.1:p.Lys833Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2519A>G
  hgvsp: ENSP00000361520.1:p.Lys840Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2705A>G
  hgvsp: ENSP00000385552.3:p.Lys902Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1641A>G
  hgvsp: ENSP00000402150.1:p.Lys548Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9375T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2693A>G
  hgvsp: ENSP00000385717.3:p.Lys898Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2642A>G
  hgvsp: ENSP00000385806.1:p.Lys881Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2519A>G
  hgvsp: ENSP00000286627.5:p.Lys840Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2702A>G
  hgvsp: ENSP00000346321.5:p.Lys901Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2693A>G
  hgvsp: ENSP00000286628.8:p.Lys898Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.172T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9375T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2114A>G
  hgvsp: ENSP00000473714.1:p.Lys705Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28452T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys881Arg
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: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

10-78708918-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708918
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708918
    reference: chr 10
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28450G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2328C>G
  hgvsp: ENST00000372408.2:c.2328C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.225G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2517C>G
  hgvsp: ENST00000372440.1:c.2517C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2691C>G
  hgvsp: ENST00000286628.8:c.2691C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2691C>G
  hgvsp: ENST00000404771.3:c.2691C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2700C>G
  hgvsp: ENST00000354353.5:c.2700C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2112C>G
  hgvsp: ENST00000604624.1:c.2112C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2517C>G
  hgvsp: ENST00000286627.5:c.2517C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2517C>G
  hgvsp: ENST00000372443.1:c.2517C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2703C>G
  hgvsp: ENST00000406533.3:c.2703C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9377G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2369C>G
  hgvsp: ENST00000372403.4:c.2369C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1639C>G
  hgvsp: ENST00000434208.1:c.1639C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2496C>G
  hgvsp: ENST00000372437.1:c.2496C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2437C>G
  hgvsp: ENST00000372421.5:c.2437C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.174G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2640C>G
  hgvsp: ENST00000404857.1:c.2640C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9377G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2613C>G
  hgvsp: ENST00000457953.1:c.2613C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro880Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/10-78708933-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708933
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708933
    reference: chr 10
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.189C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28435C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2676G>T
  hgvsp: ENST00000404771.3:c.2676G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2354G>T
  hgvsp: ENST00000372403.4:c.2354G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9392C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2688G>T
  hgvsp: ENST00000406533.3:c.2688G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2422G>T
  hgvsp: ENST00000372421.5:c.2422G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2625G>T
  hgvsp: ENST00000404857.1:c.2625G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2502G>T
  hgvsp: ENST00000286627.5:c.2502G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2685G>T
  hgvsp: ENST00000354353.5:c.2685G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2676G>T
  hgvsp: ENST00000286628.8:c.2676G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2502G>T
  hgvsp: ENST00000372443.1:c.2502G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2313G>T
  hgvsp: ENST00000372408.2:c.2313G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2598G>T
  hgvsp: ENST00000457953.1:c.2598G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2481G>T
  hgvsp: ENST00000372437.1:c.2481G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.240C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1624G>T
  hgvsp: ENST00000434208.1:c.1624G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2097G>T
  hgvsp: ENST00000604624.1:c.2097G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2502G>T
  hgvsp: ENST00000372440.1:c.2502G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9392C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr875Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

10-78708933-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708933
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708933
    reference: chr 10
allele count: 2
allele frequency: 1.650709805216243e-5
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2502G>A
  hgvsp: ENST00000372443.1:c.2502G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2502G>A
  hgvsp: ENST00000372440.1:c.2502G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2676G>A
  hgvsp: ENST00000286628.8:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.189C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2598G>A
  hgvsp: ENST00000457953.1:c.2598G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2354G>A
  hgvsp: ENST00000372403.4:c.2354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1624G>A
  hgvsp: ENST00000434208.1:c.1624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2625G>A
  hgvsp: ENST00000404857.1:c.2625G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2313G>A
  hgvsp: ENST00000372408.2:c.2313G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9392C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2422G>A
  hgvsp: ENST00000372421.5:c.2422G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2688G>A
  hgvsp: ENST00000406533.3:c.2688G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9392C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2685G>A
  hgvsp: ENST00000354353.5:c.2685G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2502G>A
  hgvsp: ENST00000286627.5:c.2502G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2676G>A
  hgvsp: ENST00000404771.3:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2097G>A
  hgvsp: ENST00000604624.1:c.2097G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.240C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2481G>A
  hgvsp: ENST00000372437.1:c.2481G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28435C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr875Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

10-78708934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708934
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708934
    reference: chr 10
allele count: 16
allele frequency: 1.320502451182675e-4
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2501C>T
  hgvsp: ENSP00000361520.1:p.Thr834Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2687C>T
  hgvsp: ENSP00000385552.3:p.Thr896Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1623C>T
  hgvsp: ENSP00000402150.1:p.Thr542Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.241G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2675C>T
  hgvsp: ENSP00000286628.8:p.Thr892Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2480C>T
  hgvsp: ENSP00000361514.1:p.Thr827Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.190G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2421C>T
  hgvsp: ENSP00000361498.5:p.Thr808Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2597C>T
  hgvsp: ENSP00000396608.1:p.Thr866Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9393G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2684C>T
  hgvsp: ENSP00000346321.5:p.Thr895Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2353C>T
  hgvsp: ENSP00000361480.3:p.Thr785Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2675C>T
  hgvsp: ENSP00000385717.3:p.Thr892Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2501C>T
  hgvsp: ENSP00000286627.5:p.Thr834Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2312C>T
  hgvsp: ENSP00000361485.2:p.Thr771Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2096C>T
  hgvsp: ENSP00000473714.1:p.Thr699Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9393G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2624C>T
  hgvsp: ENSP00000385806.1:p.Thr875Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28434G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2501C>T
  hgvsp: ENSP00000361517.1:p.Thr834Met
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr875Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

10-78708947-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708947
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708947
    reference: chr 10
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28421G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2611C>A
  hgvsp: ENST00000404857.1:c.2611C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.203G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2340C>A
  hgvsp: ENST00000372403.4:c.2340C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2584C>A
  hgvsp: ENST00000457953.1:c.2584C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2467C>A
  hgvsp: ENST00000372437.1:c.2467C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2488C>A
  hgvsp: ENST00000372443.1:c.2488C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2408C>A
  hgvsp: ENST00000372421.5:c.2408C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2674C>A
  hgvsp: ENST00000406533.3:c.2674C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2662C>A
  hgvsp: ENST00000404771.3:c.2662C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2488C>A
  hgvsp: ENST00000286627.5:c.2488C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2083C>A
  hgvsp: ENST00000604624.1:c.2083C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1610C>A
  hgvsp: ENST00000434208.1:c.1610C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9406G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2662C>A
  hgvsp: ENST00000286628.8:c.2662C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.254G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9406G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2299C>A
  hgvsp: ENST00000372408.2:c.2299C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2488C>A
  hgvsp: ENST00000372440.1:c.2488C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2671C>A
  hgvsp: ENST00000354353.5:c.2671C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg871Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

10-78708949-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708949
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708949
    reference: chr 10
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2660A>G
  hgvsp: ENSP00000385717.3:p.Lys887Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1608A>G
  hgvsp: ENSP00000402150.1:p.Lys537Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2486A>G
  hgvsp: ENSP00000286627.5:p.Lys829Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2081A>G
  hgvsp: ENSP00000473714.1:p.Lys694Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9408T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2297A>G
  hgvsp: ENSP00000361485.2:p.Lys766Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2609A>G
  hgvsp: ENSP00000385806.1:p.Lys870Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2582A>G
  hgvsp: ENSP00000396608.1:p.Lys861Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2406A>G
  hgvsp: ENSP00000361498.5:p.Lys803Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2660A>G
  hgvsp: ENSP00000286628.8:p.Lys887Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2338A>G
  hgvsp: ENSP00000361480.3:p.Lys780Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.205T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28419T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2672A>G
  hgvsp: ENSP00000385552.3:p.Lys891Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2486A>G
  hgvsp: ENSP00000361517.1:p.Lys829Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9408T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2669A>G
  hgvsp: ENSP00000346321.5:p.Lys890Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.256T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2465A>G
  hgvsp: ENSP00000361514.1:p.Lys822Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2486A>G
  hgvsp: ENSP00000361520.1:p.Lys829Arg
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys870Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-78708964-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708964
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708964
    reference: chr 10
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.271G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2654C>G
  hgvsp: ENSP00000346321.5:p.Ser885Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2567C>G
  hgvsp: ENSP00000396608.1:p.Ser856Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9423G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2645C>G
  hgvsp: ENSP00000385717.3:p.Ser882Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28404G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2594C>G
  hgvsp: ENSP00000385806.1:p.Ser865Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2282C>G
  hgvsp: ENSP00000361485.2:p.Ser761Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1593C>G
  hgvsp: ENSP00000402150.1:p.Ser532Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2471C>G
  hgvsp: ENSP00000361517.1:p.Ser824Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.220G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2471C>G
  hgvsp: ENSP00000361520.1:p.Ser824Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2391C>G
  hgvsp: ENSP00000361498.5:p.Ser798Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2471C>G
  hgvsp: ENSP00000286627.5:p.Ser824Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2323C>G
  hgvsp: ENSP00000361480.3:p.Ser775Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2657C>G
  hgvsp: ENSP00000385552.3:p.Ser886Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9423G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2645C>G
  hgvsp: ENSP00000286628.8:p.Ser882Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2066C>G
  hgvsp: ENSP00000473714.1:p.Ser689Cys
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2450C>G
  hgvsp: ENSP00000361514.1:p.Ser817Cys
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser865Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

10-78708980-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708980
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708980
    reference: chr 10
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.236T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2266A>G
  hgvsp: ENSP00000361485.2:p.Ile756Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2455A>G
  hgvsp: ENSP00000286627.5:p.Ile819Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9439T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2638A>G
  hgvsp: ENSP00000346321.5:p.Ile880Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2375A>G
  hgvsp: ENSP00000361498.5:p.Ile793Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2629A>G
  hgvsp: ENSP00000286628.8:p.Ile877Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28388T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1577A>G
  hgvsp: ENSP00000402150.1:p.Ile527Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2629A>G
  hgvsp: ENSP00000385717.3:p.Ile877Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9439T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2434A>G
  hgvsp: ENSP00000361514.1:p.Ile812Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2455A>G
  hgvsp: ENSP00000361517.1:p.Ile819Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2307A>G
  hgvsp: ENSP00000361480.3:p.Ile770Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.287T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2641A>G
  hgvsp: ENSP00000385552.3:p.Ile881Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2455A>G
  hgvsp: ENSP00000361520.1:p.Ile819Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2578A>G
  hgvsp: ENSP00000385806.1:p.Ile860Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2551A>G
  hgvsp: ENSP00000396608.1:p.Ile851Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2050A>G
  hgvsp: ENSP00000473714.1:p.Ile684Val
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile860Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

10-78708981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708981
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708981
    reference: chr 10
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2306C>T
  hgvsp: ENST00000372403.4:c.2306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2454C>T
  hgvsp: ENST00000372440.1:c.2454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2454C>T
  hgvsp: ENST00000286627.5:c.2454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2049C>T
  hgvsp: ENST00000604624.1:c.2049C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2628C>T
  hgvsp: ENST00000286628.8:c.2628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2637C>T
  hgvsp: ENST00000354353.5:c.2637C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.237G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28387G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2640C>T
  hgvsp: ENST00000406533.3:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.288G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2265C>T
  hgvsp: ENST00000372408.2:c.2265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1576C>T
  hgvsp: ENST00000434208.1:c.1576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2454C>T
  hgvsp: ENST00000372443.1:c.2454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2374C>T
  hgvsp: ENST00000372421.5:c.2374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2550C>T
  hgvsp: ENST00000457953.1:c.2550C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2628C>T
  hgvsp: ENST00000404771.3:c.2628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2577C>T
  hgvsp: ENST00000404857.1:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2433C>T
  hgvsp: ENST00000372437.1:c.2433C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9440G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9440G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His859His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

10-78708990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708990
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708990
    reference: chr 10
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2365G>A
  hgvsp: ENST00000372421.5:c.2365G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.246C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2568G>A
  hgvsp: ENST00000404857.1:c.2568G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2619G>A
  hgvsp: ENST00000404771.3:c.2619G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2256G>A
  hgvsp: ENST00000372408.2:c.2256G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2445G>A
  hgvsp: ENST00000286627.5:c.2445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2445G>A
  hgvsp: ENST00000372443.1:c.2445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2297G>A
  hgvsp: ENST00000372403.4:c.2297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2424G>A
  hgvsp: ENST00000372437.1:c.2424G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2619G>A
  hgvsp: ENST00000286628.8:c.2619G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1567G>A
  hgvsp: ENST00000434208.1:c.1567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.297C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2541G>A
  hgvsp: ENST00000457953.1:c.2541G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9449C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2631G>A
  hgvsp: ENST00000406533.3:c.2631G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2445G>A
  hgvsp: ENST00000372440.1:c.2445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28378C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2628G>A
  hgvsp: ENST00000354353.5:c.2628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9449C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2040G>A
  hgvsp: ENST00000604624.1:c.2040G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu856Glu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

10-78708993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708993
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708993
    reference: chr 10
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.300A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2253T>C
  hgvsp: ENST00000372408.2:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1564T>C
  hgvsp: ENST00000434208.1:c.1564T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2628T>C
  hgvsp: ENST00000406533.3:c.2628T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2294T>C
  hgvsp: ENST00000372403.4:c.2294T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2538T>C
  hgvsp: ENST00000457953.1:c.2538T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2565T>C
  hgvsp: ENST00000404857.1:c.2565T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2362T>C
  hgvsp: ENST00000372421.5:c.2362T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2442T>C
  hgvsp: ENST00000372443.1:c.2442T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2616T>C
  hgvsp: ENST00000404771.3:c.2616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2625T>C
  hgvsp: ENST00000354353.5:c.2625T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2037T>C
  hgvsp: ENST00000604624.1:c.2037T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2616T>C
  hgvsp: ENST00000286628.8:c.2616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9452A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2421T>C
  hgvsp: ENST00000372437.1:c.2421T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2442T>C
  hgvsp: ENST00000372440.1:c.2442T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.249A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28375A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2442T>C
  hgvsp: ENST00000286627.5:c.2442T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9452A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His855His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

10-78708994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78708994
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78708994
    reference: chr 10
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2564A>G
  hgvsp: ENSP00000385806.1:p.His855Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2441A>G
  hgvsp: ENSP00000286627.5:p.His814Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2036A>G
  hgvsp: ENSP00000473714.1:p.His679Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2293A>G
  hgvsp: ENSP00000361480.3:p.His765Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2537A>G
  hgvsp: ENSP00000396608.1:p.His846Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2627A>G
  hgvsp: ENSP00000385552.3:p.His876Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2420A>G
  hgvsp: ENSP00000361514.1:p.His807Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9453T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1563A>G
  hgvsp: ENSP00000402150.1:p.His522Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2252A>G
  hgvsp: ENSP00000361485.2:p.His751Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.301T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2441A>G
  hgvsp: ENSP00000361520.1:p.His814Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28374T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2615A>G
  hgvsp: ENSP00000286628.8:p.His872Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2361A>G
  hgvsp: ENSP00000361498.5:p.His788Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2441A>G
  hgvsp: ENSP00000361517.1:p.His814Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2624A>G
  hgvsp: ENSP00000346321.5:p.His875Arg
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9453T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.250T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2615A>G
  hgvsp: ENSP00000385717.3:p.His872Arg
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His855Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

10-78709014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709014
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709014
    reference: chr 10
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2421T>C
  hgvsp: ENST00000372440.1:c.2421T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2604T>C
  hgvsp: ENST00000354353.5:c.2604T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2595T>C
  hgvsp: ENST00000404771.3:c.2595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2421T>C
  hgvsp: ENST00000372443.1:c.2421T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.270A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.321A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1543T>C
  hgvsp: ENST00000434208.1:c.1543T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2595T>C
  hgvsp: ENST00000286628.8:c.2595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2341T>C
  hgvsp: ENST00000372421.5:c.2341T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2400T>C
  hgvsp: ENST00000372437.1:c.2400T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9473A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2273T>C
  hgvsp: ENST00000372403.4:c.2273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2232T>C
  hgvsp: ENST00000372408.2:c.2232T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2607T>C
  hgvsp: ENST00000406533.3:c.2607T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2517T>C
  hgvsp: ENST00000457953.1:c.2517T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28354A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2544T>C
  hgvsp: ENST00000404857.1:c.2544T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2016T>C
  hgvsp: ENST00000604624.1:c.2016T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9473A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2421T>C
  hgvsp: ENST00000286627.5:c.2421T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg848Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/10-78709020-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709020
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709020
    reference: chr 10
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2601G>T
  hgvsp: ENST00000406533.3:c.2601G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2415G>T
  hgvsp: ENST00000286627.5:c.2415G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2538G>T
  hgvsp: ENST00000404857.1:c.2538G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2267G>T
  hgvsp: ENST00000372403.4:c.2267G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2226G>T
  hgvsp: ENST00000372408.2:c.2226G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2415G>T
  hgvsp: ENST00000372440.1:c.2415G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2394G>T
  hgvsp: ENST00000372437.1:c.2394G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2010G>T
  hgvsp: ENST00000604624.1:c.2010G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.276C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2415G>T
  hgvsp: ENST00000372443.1:c.2415G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2598G>T
  hgvsp: ENST00000354353.5:c.2598G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2589G>T
  hgvsp: ENST00000404771.3:c.2589G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2511G>T
  hgvsp: ENST00000457953.1:c.2511G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2335G>T
  hgvsp: ENST00000372421.5:c.2335G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1537G>T
  hgvsp: ENST00000434208.1:c.1537G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28348C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9479C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2589G>T
  hgvsp: ENST00000286628.8:c.2589G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.327C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9479C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro846Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

10-78709020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709020
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709020
    reference: chr 10
allele count: 11
allele frequency: 9.067827348567283e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2415G>A
  hgvsp: ENST00000286627.5:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.276C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2415G>A
  hgvsp: ENST00000372443.1:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2415G>A
  hgvsp: ENST00000372440.1:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2589G>A
  hgvsp: ENST00000404771.3:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.2010G>A
  hgvsp: ENST00000604624.1:c.2010G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1537G>A
  hgvsp: ENST00000434208.1:c.1537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2226G>A
  hgvsp: ENST00000372408.2:c.2226G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2335G>A
  hgvsp: ENST00000372421.5:c.2335G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2538G>A
  hgvsp: ENST00000404857.1:c.2538G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2394G>A
  hgvsp: ENST00000372437.1:c.2394G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2601G>A
  hgvsp: ENST00000406533.3:c.2601G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28348C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2267G>A
  hgvsp: ENST00000372403.4:c.2267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.327C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9479C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2511G>A
  hgvsp: ENST00000457953.1:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2598G>A
  hgvsp: ENST00000354353.5:c.2598G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2589G>A
  hgvsp: ENST00000286628.8:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9479C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro846Pro
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

10-78709032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709032
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709032
    reference: chr 10
allele count: 3
allele frequency: 2.473859550747106e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.288G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2577C>T
  hgvsp: ENST00000286628.8:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2499C>T
  hgvsp: ENST00000457953.1:c.2499C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2403C>T
  hgvsp: ENST00000286627.5:c.2403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2214C>T
  hgvsp: ENST00000372408.2:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2323C>T
  hgvsp: ENST00000372421.5:c.2323C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2403C>T
  hgvsp: ENST00000372443.1:c.2403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2577C>T
  hgvsp: ENST00000404771.3:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1525C>T
  hgvsp: ENST00000434208.1:c.1525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2255C>T
  hgvsp: ENST00000372403.4:c.2255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1998C>T
  hgvsp: ENST00000604624.1:c.1998C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2403C>T
  hgvsp: ENST00000372440.1:c.2403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.339G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2526C>T
  hgvsp: ENST00000404857.1:c.2526C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2382C>T
  hgvsp: ENST00000372437.1:c.2382C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2589C>T
  hgvsp: ENST00000406533.3:c.2589C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9491G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9491G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28336G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2586C>T
  hgvsp: ENST00000354353.5:c.2586C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn842Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

10-78709036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709036
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709036
    reference: chr 10
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2319G>A
  hgvsp: ENSP00000361498.5:p.Arg774Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9495C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2582G>A
  hgvsp: ENSP00000346321.5:p.Arg861Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2522G>A
  hgvsp: ENSP00000385806.1:p.Arg841Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2378G>A
  hgvsp: ENSP00000361514.1:p.Arg793Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28332C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.343C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2573G>A
  hgvsp: ENSP00000385717.3:p.Arg858Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2399G>A
  hgvsp: ENSP00000361520.1:p.Arg800Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2251G>A
  hgvsp: ENSP00000361480.3:p.Arg751Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2210G>A
  hgvsp: ENSP00000361485.2:p.Arg737Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1521G>A
  hgvsp: ENSP00000402150.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2399G>A
  hgvsp: ENSP00000361517.1:p.Arg800Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2585G>A
  hgvsp: ENSP00000385552.3:p.Arg862Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2573G>A
  hgvsp: ENSP00000286628.8:p.Arg858Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.292C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1994G>A
  hgvsp: ENSP00000473714.1:p.Arg665Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2495G>A
  hgvsp: ENSP00000396608.1:p.Arg832Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2399G>A
  hgvsp: ENSP00000286627.5:p.Arg800Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9495C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg841Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

10-78709044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709044
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709044
    reference: chr 10
allele count: 859
allele frequency: 7.088277523806381e-3
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9503G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1513C>T
  hgvsp: ENST00000434208.1:c.1513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2391C>T
  hgvsp: ENST00000372443.1:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2574C>T
  hgvsp: ENST00000354353.5:c.2574C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2243C>T
  hgvsp: ENST00000372403.4:c.2243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2577C>T
  hgvsp: ENST00000406533.3:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2487C>T
  hgvsp: ENST00000457953.1:c.2487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2391C>T
  hgvsp: ENST00000286627.5:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1986C>T
  hgvsp: ENST00000604624.1:c.1986C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.300G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.351G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2565C>T
  hgvsp: ENST00000404771.3:c.2565C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2202C>T
  hgvsp: ENST00000372408.2:c.2202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2311C>T
  hgvsp: ENST00000372421.5:c.2311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2391C>T
  hgvsp: ENST00000372440.1:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9503G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2514C>T
  hgvsp: ENST00000404857.1:c.2514C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2565C>T
  hgvsp: ENST00000286628.8:c.2565C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28324G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2370C>T
  hgvsp: ENST00000372437.1:c.2370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile838Ile
num of homozygotes: 35
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

10-78709046-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709046
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709046
    reference: chr 10
allele count: 5
allele frequency: 4.125752949913359e-5
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2512A>G
  hgvsp: ENSP00000385806.1:p.Ile838Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2309A>G
  hgvsp: ENSP00000361498.5:p.Ile771Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2575A>G
  hgvsp: ENSP00000385552.3:p.Ile859Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2563A>G
  hgvsp: ENSP00000385717.3:p.Ile855Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2368A>G
  hgvsp: ENSP00000361514.1:p.Ile790Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2389A>G
  hgvsp: ENSP00000361517.1:p.Ile797Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.353T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1511A>G
  hgvsp: ENSP00000402150.1:p.Ile505Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28322T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2241A>G
  hgvsp: ENSP00000361480.3:p.Ile748Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2389A>G
  hgvsp: ENSP00000286627.5:p.Ile797Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2200A>G
  hgvsp: ENSP00000361485.2:p.Ile734Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9505T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2572A>G
  hgvsp: ENSP00000346321.5:p.Ile858Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2485A>G
  hgvsp: ENSP00000396608.1:p.Ile829Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2389A>G
  hgvsp: ENSP00000361520.1:p.Ile797Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1984A>G
  hgvsp: ENSP00000473714.1:p.Ile662Val
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9505T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.302T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2563A>G
  hgvsp: ENSP00000286628.8:p.Ile855Val
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile838Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

10-78709056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709056
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709056
    reference: chr 10
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2553C>T
  hgvsp: ENST00000404771.3:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.363G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2379C>T
  hgvsp: ENST00000372440.1:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2299C>T
  hgvsp: ENST00000372421.5:c.2299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2565C>T
  hgvsp: ENST00000406533.3:c.2565C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28312G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.312G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2553C>T
  hgvsp: ENST00000286628.8:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2358C>T
  hgvsp: ENST00000372437.1:c.2358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2231C>T
  hgvsp: ENST00000372403.4:c.2231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2379C>T
  hgvsp: ENST00000286627.5:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2475C>T
  hgvsp: ENST00000457953.1:c.2475C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9515G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2190C>T
  hgvsp: ENST00000372408.2:c.2190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2379C>T
  hgvsp: ENST00000372443.1:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1501C>T
  hgvsp: ENST00000434208.1:c.1501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2502C>T
  hgvsp: ENST00000404857.1:c.2502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9515G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2562C>T
  hgvsp: ENST00000354353.5:c.2562C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1974C>T
  hgvsp: ENST00000604624.1:c.1974C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser834Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

10-78709061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709061
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709061
    reference: chr 10
allele count: 86
allele frequency: 7.104854433098708e-4
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2557G>A
  hgvsp: ENSP00000346321.5:p.Val853Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.368C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2226G>A
  hgvsp: ENSP00000361480.3:p.Val743Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2560G>A
  hgvsp: ENSP00000385552.3:p.Val854Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2548G>A
  hgvsp: ENSP00000385717.3:p.Val850Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9520C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2294G>A
  hgvsp: ENSP00000361498.5:p.Val766Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1496G>A
  hgvsp: ENSP00000402150.1:p.Val500Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2497G>A
  hgvsp: ENSP00000385806.1:p.Val833Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2185G>A
  hgvsp: ENSP00000361485.2:p.Val729Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2374G>A
  hgvsp: ENSP00000361517.1:p.Val792Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2548G>A
  hgvsp: ENSP00000286628.8:p.Val850Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2470G>A
  hgvsp: ENSP00000396608.1:p.Val824Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28307C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2374G>A
  hgvsp: ENSP00000361520.1:p.Val792Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2374G>A
  hgvsp: ENSP00000286627.5:p.Val792Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9520C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1969G>A
  hgvsp: ENSP00000473714.1:p.Val657Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.317C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2353G>A
  hgvsp: ENSP00000361514.1:p.Val785Ile
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val833Ile
num of homozygotes: 2
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

10-78709062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709062
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709062
    reference: chr 10
allele count: 51
allele frequency: 4.213274292417758e-4
allele num: 121046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.318G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2373C>T
  hgvsp: ENST00000372443.1:c.2373C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28306G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2547C>T
  hgvsp: ENST00000404771.3:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2556C>T
  hgvsp: ENST00000354353.5:c.2556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2559C>T
  hgvsp: ENST00000406533.3:c.2559C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9521G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2373C>T
  hgvsp: ENST00000286627.5:c.2373C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2496C>T
  hgvsp: ENST00000404857.1:c.2496C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1968C>T
  hgvsp: ENST00000604624.1:c.1968C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2547C>T
  hgvsp: ENST00000286628.8:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2293C>T
  hgvsp: ENST00000372421.5:c.2293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9521G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2184C>T
  hgvsp: ENST00000372408.2:c.2184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1495C>T
  hgvsp: ENST00000434208.1:c.1495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2225C>T
  hgvsp: ENST00000372403.4:c.2225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2373C>T
  hgvsp: ENST00000372440.1:c.2373C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.369G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2469C>T
  hgvsp: ENST00000457953.1:c.2469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2352C>T
  hgvsp: ENST00000372437.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp832Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

10-78709062-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709062
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709062
    reference: chr 10
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2293C>A
  hgvsp: ENSP00000361498.5:p.Asp765Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2559C>A
  hgvsp: ENSP00000385552.3:p.Asp853Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2496C>A
  hgvsp: ENSP00000385806.1:p.Asp832Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2547C>A
  hgvsp: ENSP00000385717.3:p.Asp849Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2373C>A
  hgvsp: ENSP00000361520.1:p.Asp791Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1968C>A
  hgvsp: ENSP00000473714.1:p.Asp656Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2184C>A
  hgvsp: ENSP00000361485.2:p.Asp728Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2373C>A
  hgvsp: ENSP00000286627.5:p.Asp791Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9521G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2352C>A
  hgvsp: ENSP00000361514.1:p.Asp784Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2469C>A
  hgvsp: ENSP00000396608.1:p.Asp823Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2373C>A
  hgvsp: ENSP00000361517.1:p.Asp791Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2547C>A
  hgvsp: ENSP00000286628.8:p.Asp849Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9521G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2225C>A
  hgvsp: ENSP00000361480.3:p.Asp742Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2556C>A
  hgvsp: ENSP00000346321.5:p.Asp852Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28306G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.318G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1495C>A
  hgvsp: ENSP00000402150.1:p.Asp499Glu
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.369G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp832Glu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

10-78709064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709064
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709064
    reference: chr 10
allele count: 3
allele frequency: 2.478888136041381e-5
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2371G>A
  hgvsp: ENSP00000286627.5:p.Asp791Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2494G>A
  hgvsp: ENSP00000385806.1:p.Asp832Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9523C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2545G>A
  hgvsp: ENSP00000286628.8:p.Asp849Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1493G>A
  hgvsp: ENSP00000402150.1:p.Asp499Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2557G>A
  hgvsp: ENSP00000385552.3:p.Asp853Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2371G>A
  hgvsp: ENSP00000361520.1:p.Asp791Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9523C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2350G>A
  hgvsp: ENSP00000361514.1:p.Asp784Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1966G>A
  hgvsp: ENSP00000473714.1:p.Asp656Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.371C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2291G>A
  hgvsp: ENSP00000361498.5:p.Asp765Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2182G>A
  hgvsp: ENSP00000361485.2:p.Asp728Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2223G>A
  hgvsp: ENSP00000361480.3:p.Asp742Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.320C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2545G>A
  hgvsp: ENSP00000385717.3:p.Asp849Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2467G>A
  hgvsp: ENSP00000396608.1:p.Asp823Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2554G>A
  hgvsp: ENSP00000346321.5:p.Asp852Asn
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28304C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2371G>A
  hgvsp: ENSP00000361517.1:p.Asp791Asn
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp832Asn
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

10-78709065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709065
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709065
    reference: chr 10
allele count: 10
allele frequency: 8.266649031148733e-5
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1492C>T
  hgvsp: ENST00000434208.1:c.1492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2222C>T
  hgvsp: ENST00000372403.4:c.2222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2181C>T
  hgvsp: ENST00000372408.2:c.2181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2290C>T
  hgvsp: ENST00000372421.5:c.2290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2544C>T
  hgvsp: ENST00000286628.8:c.2544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9524G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2370C>T
  hgvsp: ENST00000372443.1:c.2370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.372G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2493C>T
  hgvsp: ENST00000404857.1:c.2493C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2544C>T
  hgvsp: ENST00000404771.3:c.2544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2370C>T
  hgvsp: ENST00000286627.5:c.2370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2466C>T
  hgvsp: ENST00000457953.1:c.2466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2553C>T
  hgvsp: ENST00000354353.5:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2370C>T
  hgvsp: ENST00000372440.1:c.2370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2349C>T
  hgvsp: ENST00000372437.1:c.2349C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.321G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2556C>T
  hgvsp: ENST00000406533.3:c.2556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28303G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1965C>T
  hgvsp: ENST00000604624.1:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9524G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly831Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

10-78709082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709082
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709082
    reference: chr 10
allele count: 2
allele frequency: 1.664779916095092e-5
allele num: 120136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2164G>A
  hgvsp: ENSP00000361485.2:p.Val722Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2273G>A
  hgvsp: ENSP00000361498.5:p.Val759Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.338C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1475G>A
  hgvsp: ENSP00000402150.1:p.Val493Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2353G>A
  hgvsp: ENSP00000361520.1:p.Val785Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2539G>A
  hgvsp: ENSP00000385552.3:p.Val847Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1948G>A
  hgvsp: ENSP00000473714.1:p.Val650Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2353G>A
  hgvsp: ENSP00000361517.1:p.Val785Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2205G>A
  hgvsp: ENSP00000361480.3:p.Val736Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2527G>A
  hgvsp: ENSP00000286628.8:p.Val843Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9541C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2476G>A
  hgvsp: ENSP00000385806.1:p.Val826Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2353G>A
  hgvsp: ENSP00000286627.5:p.Val785Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2527G>A
  hgvsp: ENSP00000385717.3:p.Val843Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9541C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2536G>A
  hgvsp: ENSP00000346321.5:p.Val846Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2449G>A
  hgvsp: ENSP00000396608.1:p.Val817Met
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28286C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.389C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2332G>A
  hgvsp: ENSP00000361514.1:p.Val778Met
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val826Met
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: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

10-78709083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709083
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709083
    reference: chr 10
allele count: 1083
allele frequency: 9.020189232409381e-3
allele num: 120064
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2204C>T
  hgvsp: ENST00000372403.4:c.2204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2538C>T
  hgvsp: ENST00000406533.3:c.2538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28285G>A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.390G>A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1947C>T
  hgvsp: ENST00000604624.1:c.1947C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2448C>T
  hgvsp: ENST00000457953.1:c.2448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1474C>T
  hgvsp: ENST00000434208.1:c.1474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2526C>T
  hgvsp: ENST00000286628.8:c.2526C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2352C>T
  hgvsp: ENST00000372443.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2535C>T
  hgvsp: ENST00000354353.5:c.2535C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2163C>T
  hgvsp: ENST00000372408.2:c.2163C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2331C>T
  hgvsp: ENST00000372437.1:c.2331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2352C>T
  hgvsp: ENST00000286627.5:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2272C>T
  hgvsp: ENST00000372421.5:c.2272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2352C>T
  hgvsp: ENST00000372440.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2526C>T
  hgvsp: ENST00000404771.3:c.2526C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2475C>T
  hgvsp: ENST00000404857.1:c.2475C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.339G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val825Val
num of homozygotes: 12
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-78709098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709098
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709098
    reference: chr 10
allele count: 2
allele frequency: 1.706601133183153e-5
allele num: 117192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2337C>T
  hgvsp: ENST00000372440.1:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.354G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28270G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9557G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2460C>T
  hgvsp: ENST00000404857.1:c.2460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2511C>T
  hgvsp: ENST00000286628.8:c.2511C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.405G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2148C>T
  hgvsp: ENST00000372408.2:c.2148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1932C>T
  hgvsp: ENST00000604624.1:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9557G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2189C>T
  hgvsp: ENST00000372403.4:c.2189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2511C>T
  hgvsp: ENST00000404771.3:c.2511C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2316C>T
  hgvsp: ENST00000372437.1:c.2316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2337C>T
  hgvsp: ENST00000286627.5:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2523C>T
  hgvsp: ENST00000406533.3:c.2523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2337C>T
  hgvsp: ENST00000372443.1:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1459C>T
  hgvsp: ENST00000434208.1:c.1459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2257C>T
  hgvsp: ENST00000372421.5:c.2257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2520C>T
  hgvsp: ENST00000354353.5:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2433C>T
  hgvsp: ENST00000457953.1:c.2433C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val820Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

10-78709100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709100
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709100
    reference: chr 10
allele count: 1
allele frequency: 8.555783709787816e-6
allele num: 116880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2146G>A
  hgvsp: ENSP00000361485.2:p.Val716Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2314G>A
  hgvsp: ENSP00000361514.1:p.Val772Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2255G>A
  hgvsp: ENSP00000361498.5:p.Val753Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2335G>A
  hgvsp: ENSP00000286627.5:p.Val779Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2518G>A
  hgvsp: ENSP00000346321.5:p.Val840Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2335G>A
  hgvsp: ENSP00000361520.1:p.Val779Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2509G>A
  hgvsp: ENSP00000286628.8:p.Val837Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1457G>A
  hgvsp: ENSP00000402150.1:p.Val487Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.407C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2335G>A
  hgvsp: ENSP00000361517.1:p.Val779Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9559C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2458G>A
  hgvsp: ENSP00000385806.1:p.Val820Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2521G>A
  hgvsp: ENSP00000385552.3:p.Val841Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2187G>A
  hgvsp: ENSP00000361480.3:p.Val730Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9559C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.356C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28268C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1930G>A
  hgvsp: ENSP00000473714.1:p.Val644Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2509G>A
  hgvsp: ENSP00000385717.3:p.Val837Ile
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2431G>A
  hgvsp: ENSP00000396608.1:p.Val811Ile
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val820Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

10-78709101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709101
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709101
    reference: chr 10
allele count: 5
allele frequency: 4.305371381335354e-5
allele num: 116134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2334C>T
  hgvsp: ENST00000372443.1:c.2334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2508C>T
  hgvsp: ENST00000404771.3:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2508C>T
  hgvsp: ENST00000286628.8:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9560G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1456C>T
  hgvsp: ENST00000434208.1:c.1456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2334C>T
  hgvsp: ENST00000286627.5:c.2334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2517C>T
  hgvsp: ENST00000354353.5:c.2517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.357G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1929C>T
  hgvsp: ENST00000604624.1:c.1929C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2313C>T
  hgvsp: ENST00000372437.1:c.2313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2145C>T
  hgvsp: ENST00000372408.2:c.2145C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2457C>T
  hgvsp: ENST00000404857.1:c.2457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2186C>T
  hgvsp: ENST00000372403.4:c.2186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2254C>T
  hgvsp: ENST00000372421.5:c.2254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28267G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2520C>T
  hgvsp: ENST00000406533.3:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9560G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2430C>T
  hgvsp: ENST00000457953.1:c.2430C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.408G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2334C>T
  hgvsp: ENST00000372440.1:c.2334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr819Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

10-78709107-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709107
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709107
    reference: chr 10
allele count: 4
allele frequency: 3.495647918341665e-5
allele num: 114428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28261G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2180C>G
  hgvsp: ENST00000372403.4:c.2180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2514C>G
  hgvsp: ENST00000406533.3:c.2514C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2328C>G
  hgvsp: ENST00000372443.1:c.2328C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2248C>G
  hgvsp: ENST00000372421.5:c.2248C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2451C>G
  hgvsp: ENST00000404857.1:c.2451C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.414G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.363G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2139C>G
  hgvsp: ENST00000372408.2:c.2139C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2502C>G
  hgvsp: ENST00000286628.8:c.2502C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2511C>G
  hgvsp: ENST00000354353.5:c.2511C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2328C>G
  hgvsp: ENST00000286627.5:c.2328C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9566G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1450C>G
  hgvsp: ENST00000434208.1:c.1450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2307C>G
  hgvsp: ENST00000372437.1:c.2307C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1923C>G
  hgvsp: ENST00000604624.1:c.1923C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2328C>G
  hgvsp: ENST00000372440.1:c.2328C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2502C>G
  hgvsp: ENST00000404771.3:c.2502C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9566G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2424C>G
  hgvsp: ENST00000457953.1:c.2424C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala817Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

10-78709109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709109
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709109
    reference: chr 10
allele count: 1
allele frequency: 8.800492827598345e-6
allele num: 113630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2509G>A
  hgvsp: ENSP00000346321.5:p.Ala837Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9568C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2326G>A
  hgvsp: ENSP00000361517.1:p.Ala776Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2178G>A
  hgvsp: ENSP00000361480.3:p.Ala727Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.416C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2305G>A
  hgvsp: ENSP00000361514.1:p.Ala769Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2422G>A
  hgvsp: ENSP00000396608.1:p.Ala808Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2512G>A
  hgvsp: ENSP00000385552.3:p.Ala838Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.365C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2137G>A
  hgvsp: ENSP00000361485.2:p.Ala713Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2326G>A
  hgvsp: ENSP00000286627.5:p.Ala776Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2500G>A
  hgvsp: ENSP00000286628.8:p.Ala834Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2246G>A
  hgvsp: ENSP00000361498.5:p.Ala750Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2500G>A
  hgvsp: ENSP00000385717.3:p.Ala834Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2326G>A
  hgvsp: ENSP00000361520.1:p.Ala776Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28259C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9568C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2449G>A
  hgvsp: ENSP00000385806.1:p.Ala817Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1448G>A
  hgvsp: ENSP00000402150.1:p.Ala484Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1921G>A
  hgvsp: ENSP00000473714.1:p.Ala641Thr
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala817Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

10-78709110-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709110
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709110
    reference: chr 10
allele count: 2
allele frequency: 1.768565516509559e-5
allele num: 113086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.366A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2499T>C
  hgvsp: ENST00000286628.8:c.2499T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2511T>C
  hgvsp: ENST00000406533.3:c.2511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2136T>C
  hgvsp: ENST00000372408.2:c.2136T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.417A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2325T>C
  hgvsp: ENST00000372443.1:c.2325T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1920T>C
  hgvsp: ENST00000604624.1:c.1920T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2245T>C
  hgvsp: ENST00000372421.5:c.2245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2177T>C
  hgvsp: ENST00000372403.4:c.2177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2304T>C
  hgvsp: ENST00000372437.1:c.2304T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2448T>C
  hgvsp: ENST00000404857.1:c.2448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2325T>C
  hgvsp: ENST00000372440.1:c.2325T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2325T>C
  hgvsp: ENST00000286627.5:c.2325T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2499T>C
  hgvsp: ENST00000404771.3:c.2499T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9569A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2508T>C
  hgvsp: ENST00000354353.5:c.2508T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2421T>C
  hgvsp: ENST00000457953.1:c.2421T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9569A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1447T>C
  hgvsp: ENST00000434208.1:c.1447T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28258A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala816Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

10-78709113-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709113
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709113
    reference: chr 10
allele count: 3
allele frequency: 2.7067506360864e-5
allele num: 110834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1917A>G
  hgvsp: ENST00000604624.1:c.1917A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2242A>G
  hgvsp: ENST00000372421.5:c.2242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2445A>G
  hgvsp: ENST00000404857.1:c.2445A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2505A>G
  hgvsp: ENST00000354353.5:c.2505A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2496A>G
  hgvsp: ENST00000286628.8:c.2496A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2133A>G
  hgvsp: ENST00000372408.2:c.2133A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28255T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9572T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1444A>G
  hgvsp: ENST00000434208.1:c.1444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2322A>G
  hgvsp: ENST00000286627.5:c.2322A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2322A>G
  hgvsp: ENST00000372443.1:c.2322A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2508A>G
  hgvsp: ENST00000406533.3:c.2508A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.420T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2174A>G
  hgvsp: ENST00000372403.4:c.2174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2418A>G
  hgvsp: ENST00000457953.1:c.2418A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.369T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9572T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2322A>G
  hgvsp: ENST00000372440.1:c.2322A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2301A>G
  hgvsp: ENST00000372437.1:c.2301A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2496A>G
  hgvsp: ENST00000404771.3:c.2496A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu815Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

10-78709118-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709118
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709118
    reference: chr 10
allele count: 1
allele frequency: 9.198954998712147e-6
allele num: 108708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2503A>G
  hgvsp: ENSP00000385552.3:p.Ser835Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2317A>G
  hgvsp: ENSP00000361517.1:p.Ser773Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.374T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2491A>G
  hgvsp: ENSP00000286628.8:p.Ser831Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2500A>G
  hgvsp: ENSP00000346321.5:p.Ser834Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2317A>G
  hgvsp: ENSP00000361520.1:p.Ser773Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1439A>G
  hgvsp: ENSP00000402150.1:p.Ser481Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28250T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000608791
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000608791.1:n.425T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9577T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2128A>G
  hgvsp: ENSP00000361485.2:p.Ser710Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2237A>G
  hgvsp: ENSP00000361498.5:p.Ser747Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2317A>G
  hgvsp: ENSP00000286627.5:p.Ser773Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2491A>G
  hgvsp: ENSP00000385717.3:p.Ser831Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1912A>G
  hgvsp: ENSP00000473714.1:p.Ser638Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2440A>G
  hgvsp: ENSP00000385806.1:p.Ser814Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2296A>G
  hgvsp: ENSP00000361514.1:p.Ser766Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2169A>G
  hgvsp: ENSP00000361480.3:p.Ser724Gly
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9577T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2413A>G
  hgvsp: ENSP00000396608.1:p.Ser805Gly
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser814Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

10-78709120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709120
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709120
    reference: chr 10
allele count: 1
allele frequency: 9.278675747397332e-6
allele num: 107774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2411G>A
  hgvsp: ENSP00000396608.1:p.Arg804Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9579C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2489G>A
  hgvsp: ENSP00000286628.8:p.Arg830Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2235G>A
  hgvsp: ENSP00000361498.5:p.Arg746Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2315G>A
  hgvsp: ENSP00000361520.1:p.Arg772Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2438G>A
  hgvsp: ENSP00000385806.1:p.Arg813Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1910G>A
  hgvsp: ENSP00000473714.1:p.Arg637Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2167G>A
  hgvsp: ENSP00000361480.3:p.Arg723Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2126G>A
  hgvsp: ENSP00000361485.2:p.Arg709Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1437G>A
  hgvsp: ENSP00000402150.1:p.Arg480Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2315G>A
  hgvsp: ENSP00000361517.1:p.Arg772Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2498G>A
  hgvsp: ENSP00000346321.5:p.Arg833Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2501G>A
  hgvsp: ENSP00000385552.3:p.Arg834Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2294G>A
  hgvsp: ENSP00000361514.1:p.Arg765Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2315G>A
  hgvsp: ENSP00000286627.5:p.Arg772Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.376C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2489G>A
  hgvsp: ENSP00000385717.3:p.Arg830Gln
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28248C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9579C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg813Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

10-78709135-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709135
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709135
    reference: chr 10
allele count: 1
allele frequency: 9.958175662218682e-6
allele num: 100420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9594G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2163-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2122-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1433-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2311-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.391G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2311-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9594G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1906-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2311-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2485-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2290-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2485-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2231-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28233G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2497-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2407-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2494-11C>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2434-11C>A
  variant of: http://identifiers.org/hgnc/6284
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

10-78709146-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709146
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709146
    reference: chr 10
allele count: 1
allele frequency: 1.04760308414348e-5
allele num: 95456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28222A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1433-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2290-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2311-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2485-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2311-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2497-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2122-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2485-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9605A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2311-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2434-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2407-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2231-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.402A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2163-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1906-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2494-22T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9605A>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

10-78709146-AAGAGTCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709146
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709138
    reference: chr 10
allele count: 1
allele frequency: 1.04760308414348e-5
allele num: 95456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.407_414delTCAGAGAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  variant of: http://identifiers.org/hgnc/6284
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: AAGAGTCAG
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

10-78709154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709154
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709154
    reference: chr 10
allele count: 1
allele frequency: 1.092227707632487e-5
allele num: 91556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2485-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2311-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2311-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2434-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1906-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9613G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2290-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28214G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2497-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2122-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.410G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2494-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2163-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9613G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2311-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2407-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1433-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2485-30C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2231-30C>T
  variant of: http://identifiers.org/hgnc/6284
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

10-78709163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709163
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709163
    reference: chr 10
allele count: 1
allele frequency: 1.200710820805917e-5
allele num: 83284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2122-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1906-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9622C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.419C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9622C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2163-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2497-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2311-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2494-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2434-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2231-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28205C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2290-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2485-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1433-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2485-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2407-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2311-39G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2311-39G>A
  variant of: http://identifiers.org/hgnc/6284
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

10-78709165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709165
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709165
    reference: chr 10
allele count: 982
allele frequency: 1.181339171859587e-2
allele num: 83126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2290-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2163-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2122-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2407-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2311-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2494-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2485-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28203G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2434-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1433-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9624G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.421G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1906-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2311-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2231-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9624G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2311-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2497-41C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2485-41C>T
  variant of: http://identifiers.org/hgnc/6284
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
num of homozygotes: 15
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

10-78709168-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709168
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709168
    reference: chr 10
allele count: 1
allele frequency: 1.226933647428347e-5
allele num: 81504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1906-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2485-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28200T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2122-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2311-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2311-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.424T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2163-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2497-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9627T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2434-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9627T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2290-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2231-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2494-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2407-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2485-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1433-44A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2311-44A>G
  variant of: http://identifiers.org/hgnc/6284
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21001
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

10-78709172-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78709172
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78709172
    reference: chr 10
allele count: 3
allele frequency: 3.941559806600799e-5
allele num: 76112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2122-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2290-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-28196G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2485-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2497-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2311-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2434-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1433-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000426234
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000426234.1:n.428G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1906-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2163-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+9631G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+9631G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2494-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2407-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2311-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2311-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2485-48C>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2231-48C>G
  variant of: http://identifiers.org/hgnc/6284
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

10-78711748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78711748
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78711748
    reference: chr 10
allele count: 1
allele frequency: 4.406062742333451e-5
allele num: 22696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+12207T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2310+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2433+47A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2493+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2162+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2289+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2484+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2230+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1432+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2496+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2121+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-25620T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1905+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2310+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2310+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+12207T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2406+1811A>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2484+1811A>G
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/10-78711760-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78711760
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78711760
    reference: chr 10
allele count: 1
allele frequency: 4.399084990322013e-5
allele num: 22732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2310+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2406+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2496+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2493+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1432+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2121+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2310+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1905+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2289+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+12219A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2484+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2484+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+12219A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2230+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2433+35T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2310+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2162+1799T>G
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-25608A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

10-78711761-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78711761
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78711760
    reference: chr 10
allele count: 2
allele frequency: 8.792754770069463e-5
allele num: 22746
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2433+33delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2289+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2496+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1905+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2493+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2310+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2162+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1432+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2230+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+12221delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2406+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2484+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2310+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2484+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+12221delG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-25606delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2310+1797delC
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2121+1797delC
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: TG
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

10-78711772-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78711772
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78711772
    reference: chr 10
allele count: 1
allele frequency: 4.387119417390542e-5
allele num: 22794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2496+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+12231A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2310+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2433+23T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2493+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2230+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2406+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1432+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2121+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-25596A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1905+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2162+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2289+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2484+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2310+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2484+1787T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+12231A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2310+1787T>C
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

10-78711783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78711783
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78711783
    reference: chr 10
allele count: 1
allele frequency: 4.360338362256911e-5
allele num: 22934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2496+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2310+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2310+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+12242G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2484+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+12242G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2289+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2121+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2162+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2406+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1432+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2493+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2484+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2230+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1905+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-25585G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2310+1776C>T
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2433+12C>T
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

10-78711794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78711794
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78711794
    reference: chr 10
allele count: 1
allele frequency: 4.337265787647467e-5
allele num: 23056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2484+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2310+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+12253C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2493+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2484+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2496+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+12253C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1432+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2162+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1905+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2230+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2433+1G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2289+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2121+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2310+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-25574C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2406+1765G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2310+1765G>A
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2433+1G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

10-78711795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78711795
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78711795
    reference: chr 10
allele count: 4
allele frequency: 1.732801940738174e-4
allele num: 23084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2406+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2121+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2484+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2289+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2310+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1905+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2484+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2310+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2496+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2433G>A
  hgvsp: ENST00000404857.1:c.2433G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2310+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2162+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2230+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-25573C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+12254C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+12254C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1432+1764G>A
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2493+1764G>A
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: c.2433G>A
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

10-78711862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78711862
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78711862
    reference: chr 10
allele count: 2
allele frequency: 8.604371020478404e-5
allele num: 23244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+12321A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2366T>C
  hgvsp: ENSP00000385806.1:p.Ile789Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2484+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2406+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2289+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2493+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2162+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+12321A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2310+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2496+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1905+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-25506A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2121+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1432+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2310+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2230+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2310+1697T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2484+1697T>C
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile789Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

10-78711877-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78711877
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 78711877
    reference: chr 10
allele count: 1
allele frequency: 4.334633723450368e-5
allele num: 23070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361480
  ensembl transcript: ENST00000372403
  gene symbol: KCNMA1
  hgvsc: ENST00000372403.4:c.2162+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361514
  ensembl transcript: ENST00000372437
  gene symbol: KCNMA1
  hgvsc: ENST00000372437.1:c.2289+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286627
  ensembl transcript: ENST00000286627
  gene symbol: KCNMA1
  hgvsc: ENST00000286627.5:c.2310+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000458661
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000458661.2:n.426-25491A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000396608
  ensembl transcript: ENST00000457953
  gene symbol: KCNMA1
  hgvsc: ENST00000457953.1:c.2406+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000346321
  ensembl transcript: ENST00000354353
  gene symbol: KCNMA1
  hgvsc: ENST00000354353.5:c.2493+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361498
  ensembl transcript: ENST00000372421
  gene symbol: KCNMA1
  hgvsc: ENST00000372421.5:c.2230+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385806
  ensembl transcript: ENST00000404857
  gene symbol: KCNMA1
  hgvsc: ENST00000404857.1:c.2351T>C
  hgvsp: ENSP00000385806.1:p.Met784Thr
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000402150
  ensembl transcript: ENST00000434208
  gene symbol: KCNMA1
  hgvsc: ENST00000434208.1:c.1432+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385717
  ensembl transcript: ENST00000404771
  gene symbol: KCNMA1
  hgvsc: ENST00000404771.3:c.2484+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000598613
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000598613.1:n.676+12336A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236467
  ensembl transcript: ENST00000600782
  gene symbol: RP11-443A13.5
  hgvsc: ENST00000600782.1:n.311+12336A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000385552
  ensembl transcript: ENST00000406533
  gene symbol: KCNMA1
  hgvsc: ENST00000406533.3:c.2496+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361485
  ensembl transcript: ENST00000372408
  gene symbol: KCNMA1
  hgvsc: ENST00000372408.2:c.2121+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000286628
  ensembl transcript: ENST00000286628
  gene symbol: KCNMA1
  hgvsc: ENST00000286628.8:c.2484+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000473714
  ensembl transcript: ENST00000604624
  gene symbol: KCNMA1
  hgvsc: ENST00000604624.1:c.1905+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361517
  ensembl transcript: ENST00000372440
  gene symbol: KCNMA1
  hgvsc: ENST00000372440.1:c.2310+1682T>C
  variant of: http://identifiers.org/hgnc/6284
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156113
  ensembl protein: ENSP00000361520
  ensembl transcript: ENST00000372443
  gene symbol: KCNMA1
  hgvsc: ENST00000372443.1:c.2310+1682T>C
  variant of: http://identifiers.org/hgnc/6284
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met784Thr
num of homozygotes: 0
population: African
reference allele: A

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.918004085205719e-4
allele num: 6854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41602
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.999e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.24e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 1.785635e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

QD
type: SiteQuality
SIO_000300: 2.58e0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9506
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29095
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1839
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 404
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1555
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 750
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 452
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7602
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.426595486532395e-4
allele num: 16484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.576e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.524e0

DP
type: SiteQuality
SIO_000300: 2.037397e6

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.162e1

GenotypeDepth
all individuals: 271
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29138
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11976
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 750
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1838
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1554
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9512
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 895
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 378
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.246e0

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.062e0

QD
type: SiteQuality
SIO_000300: 1.128e1

DP
type: SiteQuality
SIO_000300: 2.03929e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000236467
ensembl transcript: ENST00000598613
gene symbol: RP11-443A13.5
hgvsc: ENST00000598613.1:n.676+9361G>A

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000156113
ensembl protein: ENSP00000361520
ensembl transcript: ENST00000372443
gene symbol: KCNMA1
hgvsc: ENST00000372443.1:c.2533C>T
hgvsp: ENSP00000361520.1:p.Pro845Ser
variant of: http://identifiers.org/hgnc/6284

GenotypeDepth
all individuals: 751
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29173
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 491
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9521
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1837
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 606
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1555
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7599
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7582
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
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: 10342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

DP
type: SiteQuality
SIO_000300: 2.041072e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.728e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeDepth
all individuals: 491
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12039
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29179
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 750
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9523
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1836
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1554
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7598
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 898
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 2.040923e6

QD
type: SiteQuality
SIO_000300: 2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.843e0

FS
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.09e0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 750
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9522
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29184
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12055
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1554
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1835
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 606
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 188
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7597
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 377
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

FS
type: SiteQuality
SIO_000300: 4.345e0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 2.041139e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.394e0

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.375e1

GenotypeDepth
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 607
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 545
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29196
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9518
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1851
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12075
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1554
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 750
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 535
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 609
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7587
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

South Asian
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allele frequency: 4.848484848484848e-4
allele num: 16500
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.201634222542658e-4
allele num: 66576
num of homozygotes: 0

East Asian
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Other
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DP
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MQ
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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European (Finnish)
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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SIO_000300: 5.245e0

MQRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 66620
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African
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East Asian
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allele count: 0
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Latino
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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MQ
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SIO_000300: 5.985e1

BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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FS
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MQ
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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South Asian
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Other
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East Asian
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Latino
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African
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European (Non-Finnish)
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VQSLOD
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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DP
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East Asian
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DP
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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East Asian
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European (Non-Finnish)
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DP
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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African
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ReadPosRankSum
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DP
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VQSLOD
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QD
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FS
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MQRankSum
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MQ
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South Asian
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African
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

South Asian
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East Asian
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Latino
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African
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European (Non-Finnish)
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Other
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
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allele num: 66680
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European (Finnish)
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Other
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QD
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DP
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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East Asian
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MQRankSum
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ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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FS
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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DP
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele num: 11532
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East Asian
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African
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South Asian
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allele frequency: 3.821887891288522e-3
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Other
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European (Non-Finnish)
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allele frequency: 3.00390507659958e-4
allele num: 66580
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ClippingRankSum
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QD
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FS
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 318
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 1.451e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 2.005648e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeDepth
all individuals: 1677
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1456
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12442
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 592
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29561
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 549
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 382
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9433
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 655
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 516
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 586
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 499
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6923
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.512922226229114e-5
allele num: 66552
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.426595486532395e-4
allele num: 16484
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 2.765e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.37e1

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.387e0

DP
type: SiteQuality
SIO_000300: 2.004553e6

GenotypeDepth
all individuals: 615
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12555
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1373
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 651
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8989
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 548
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29069
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1675
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 586
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 499
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 593
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7377
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1633
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6890
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022974607013301e-5
allele num: 66160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

QD
type: SiteQuality
SIO_000300: 5.75e0

VQSLOD
type: SiteQuality
SIO_000300: -1.644e0

FS
type: SiteQuality
SIO_000300: 1.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

DP
type: SiteQuality
SIO_000300: 1.983586e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000236467
ensembl transcript: ENST00000600782
gene symbol: RP11-443A13.5
hgvsc: ENST00000600782.1:n.311+9542G>A

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000236467
ensembl transcript: ENST00000598613
gene symbol: RP11-443A13.5
hgvsc: ENST00000598613.1:n.676+9542G>A

GenotypeDepth
all individuals: 502
bin: 6.75e1
variant carriers: 31

GenotypeDepth
all individuals: 1370
bin: 3.75e1
variant carriers: 134

GenotypeDepth
all individuals: 515
bin: 9.25e1
variant carriers: 8

GenotypeDepth
all individuals: 652
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 408
bin: 4.75e1
variant carriers: 118

GenotypeDepth
all individuals: 701
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 266
bin: 1.75e1
variant carriers: 7

GenotypeDepth
all individuals: 12574
bin: 2.25e1
variant carriers: 26

GenotypeDepth
all individuals: 579
bin: 8.75e1
variant carriers: 7

GenotypeDepth
all individuals: 342
bin: 5.25e1
variant carriers: 87

GenotypeDepth
all individuals: 446
bin: 6.25e1
variant carriers: 49

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

GenotypeDepth
all individuals: 377
bin: 5.75e1
variant carriers: 62

GenotypeDepth
all individuals: 581
bin: 8.25e1
variant carriers: 10

GenotypeDepth
all individuals: 1739
bin: 9.75e1
variant carriers: 154

GenotypeDepth
all individuals: 552
bin: 7.75e1
variant carriers: 15

GenotypeDepth
all individuals: 8893
bin: 3.25e1
variant carriers: 93

GenotypeDepth
all individuals: 548
bin: 7.25e1
variant carriers: 21

GenotypeDepth
all individuals: 29040
bin: 2.75e1
variant carriers: 93

GenotypeDepth
all individuals: 613
bin: 4.25e1
variant carriers: 154

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 7.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7297
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7290
bin: 9.75e1
variant carriers: 1067

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 2

South Asian
type: Population
allele count: 99
allele frequency: 6.048387096774193e-3
allele num: 16368
num of homozygotes: 3

African
type: Population
allele count: 22
allele frequency: 2.154328241284763e-3
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 862
allele frequency: 1.303690260133091e-2
allele num: 66120
num of homozygotes: 9

Latino
type: Population
allele count: 70
allele frequency: 6.114605171208945e-3
allele num: 11448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 2.764976958525346e-3
allele num: 6510
num of homozygotes: 0

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

Other
type: Population
allele count: 12
allele frequency: 1.333333333333333e-2
allele num: 900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.988654e6

QD
type: SiteQuality
SIO_000300: 1.375e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

GenotypeDepth
all individuals: 410
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 27090
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 269
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 713
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2570
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 586
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1031
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1636
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2063
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13287
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7383
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6334
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.805054151624549e-4
allele num: 11080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.399e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.063e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

DP
type: SiteQuality
SIO_000300: 1.886943e6

GenotypeDepth
all individuals: 2773
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 586
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2211
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13350
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1636
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26820
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 995
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7236
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.220452848967405e-5
allele num: 16076
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64528
num of homozygotes: 0

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

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

FS
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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SIO_000300: 1.65e-1

BaseQRankSum
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SIO_000300: 3.7e0

ReadPosRankSum
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SIO_000300: 1.91e0

ClippingRankSum
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SIO_000300: -2.192e0

VQSLOD
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DP
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SIO_000300: 1.879063e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.119540803593711e-5
allele num: 64112
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.734232592052497e-4
allele num: 10972
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

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

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

DP
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SIO_000300: 1.861108e6

MQRankSum
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SIO_000300: 4.07e-1

ClippingRankSum
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SIO_000300: -9.65e-1

MQ
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SIO_000300: 5.972e1

FS
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SIO_000300: 3.78e0

BaseQRankSum
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SIO_000300: 6.28e-1

ReadPosRankSum
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SIO_000300: 8.4e-1

QD
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SIO_000300: 1.157e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
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SIO_000300: 5.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 468
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.515090543259558e-4
allele num: 15904
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

MQRankSum
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SIO_000300: 6.67e-1

FS
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SIO_000300: 3.522e0

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

DP
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SIO_000300: 1.820937e6

BaseQRankSum
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SIO_000300: -2.419e0

QD
type: SiteQuality
SIO_000300: 1.058e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.042318115488847e-4
allele num: 9594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62738
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10634
num of homozygotes: 0

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

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

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

FS
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SIO_000300: 1.867e0

MQRankSum
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SIO_000300: 3.21e-1

BaseQRankSum
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SIO_000300: -1.503e0

InbreedingCoeff
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SIO_000300: 5.0e-4

VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 5.816e1

ClippingRankSum
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DP
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SIO_000300: 1.803243e6

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

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

East Asian
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allele count: 2
allele frequency: 2.53613999492772e-4
allele num: 7886
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62448
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10568
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.070663811563169e-4
allele num: 9340
num of homozygotes: 0

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

Other
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num of homozygotes: 0

Latino
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East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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FS
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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SIO_000300: 1.529e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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Other
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BaseQRankSum
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QD
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.2e-3

ClippingRankSum
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SIO_000300: -1.253e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.680333378142224e-5
allele num: 59512
num of homozygotes: 0

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

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

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

Other
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InbreedingCoeff
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SIO_000300: -1.4e-3

MQ
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

QD
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ClippingRankSum
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SIO_000300: 2.45e-1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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Latino
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African
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Other
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South Asian
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European (Non-Finnish)
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allele num: 55286
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InbreedingCoeff
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BaseQRankSum
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MQ
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FS
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VQSLOD
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QD
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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European (Non-Finnish)
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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African
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num of homozygotes: 0

Other
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East Asian
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allele frequency: 1.567889620570712e-4
allele num: 6378
num of homozygotes: 0

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

ClippingRankSum
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QD
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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SIO_000300: 1.59e0

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 5.2e-3

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele num: 6028
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.198188692517366e-5
allele num: 45492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

ReadPosRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 9.138999999999999e0

QD
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MQ
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.03e-2

BaseQRankSum
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SIO_000300: -3.367e0

ClippingRankSum
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SIO_000300: -1.266e0

GenotypeDepth
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variant carriers: 49

GenotypeDepth
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variant carriers: 236

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

African
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allele count: 55
allele frequency: 7.513661202185792e-3
allele num: 7320
num of homozygotes: 0

European (Non-Finnish)
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allele count: 733
allele frequency: 1.614750848129709e-2
allele num: 45394
num of homozygotes: 12

South Asian
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allele frequency: 4.847238542890717e-3
allele num: 13616
num of homozygotes: 1

Latino
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allele count: 35
allele frequency: 5.482456140350877e-3
allele num: 6384
num of homozygotes: 0

European (Finnish)
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allele count: 89
allele frequency: 2.010845006778129e-2
allele num: 4426
num of homozygotes: 2

Other
type: Population
allele count: 4
allele frequency: 6.25e-3
allele num: 640
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.191587e6

MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -2.374e0

QD
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SIO_000300: 1.371e1

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

African
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allele num: 7214
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European (Finnish)
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allele count: 0
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Latino
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allele frequency: 0.0e0
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Other
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South Asian
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East Asian
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DP
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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Latino
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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East Asian
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African
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Other
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MQRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -4.13e-1

DP
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Other
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DP
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VQSLOD
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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Latino
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South Asian
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MQ
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VQSLOD
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QD
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DP
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.607717041800643e-3
allele num: 622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2408
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.687e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.146e0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1

DP
type: SiteQuality
SIO_000300: 4.27228e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeDepth
all individuals: 363
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1090
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 524
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 797
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 273
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 4.107619634421852e-4
allele num: 9738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

DP
type: SiteQuality
SIO_000300: 4.27679e5

QD
type: SiteQuality
SIO_000300: 1.029e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

GenotypeDepth
all individuals: 743
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3407
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 290
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6058
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.033760423022168e-4
allele num: 9834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.928e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

QD
type: SiteQuality
SIO_000300: 1.33e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.193e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 4.2655e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

GenotypeDepth
all individuals: 208
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3387
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 218
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1096
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5937
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2430
num of homozygotes: 0