12-6471251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471251
    reference: chr 12
allele count: 6
allele frequency: 5.698655117392296e-5
allele num: 105288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5691G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.340G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.841G>A
  hgvsp: ENSP00000228916.2:p.Ala281Thr
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.910G>A
  hgvsp: ENSP00000438739.1:p.Ala304Thr
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.841G>A
  hgvsp: ENSP00000380166.2:p.Ala281Thr
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.88G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.1018G>A
  hgvsp: ENSP00000353292.3:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1358G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.841G>A
  hgvsp: ENSP00000351825.3:p.Ala281Thr
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala340Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-6471252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471252
    reference: chr 12
allele count: 19
allele frequency: 1.566493527908319e-4
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.87C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.339C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.909C>T
  hgvsp: ENST00000543768.1:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.840C>T
  hgvsp: ENST00000358945.3:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.1017C>T
  hgvsp: ENST00000360168.3:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1357C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.840C>T
  hgvsp: ENST00000396966.2:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.840C>T
  hgvsp: ENST00000228916.2:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5692C>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe339Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

12-6471253-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471253
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471253
    reference: chr 12
allele count: 73
allele frequency: 6.147989691589887e-4
allele num: 118738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.839T>C
  hgvsp: ENSP00000351825.3:p.Phe280Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.1016T>C
  hgvsp: ENSP00000353292.3:p.Phe339Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.86T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.839T>C
  hgvsp: ENSP00000228916.2:p.Phe280Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5693T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.839T>C
  hgvsp: ENSP00000380166.2:p.Phe280Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1356T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.338T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.908T>C
  hgvsp: ENSP00000438739.1:p.Phe303Ser
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe339Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-6471254-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471254
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471254
    reference: chr 12
allele count: 33
allele frequency: 2.721514811638187e-4
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5694T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.1015T>C
  hgvsp: ENSP00000353292.3:p.Phe339Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.907T>C
  hgvsp: ENSP00000438739.1:p.Phe303Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.838T>C
  hgvsp: ENSP00000351825.3:p.Phe280Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-46T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.85T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.337T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1355T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.838T>C
  hgvsp: ENSP00000228916.2:p.Phe280Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.838T>C
  hgvsp: ENSP00000380166.2:p.Phe280Leu
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe339Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-6471266-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471266
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471266
    reference: chr 12
allele count: 16
allele frequency: 1.318847986283981e-4
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5706G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-58G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.826G>T
  hgvsp: ENSP00000351825.3:p.Gly276Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.826G>T
  hgvsp: ENSP00000380166.2:p.Gly276Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.826G>T
  hgvsp: ENSP00000228916.2:p.Gly276Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.1003G>T
  hgvsp: ENSP00000353292.3:p.Gly335Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.73G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1343G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.325G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.895G>T
  hgvsp: ENSP00000438739.1:p.Gly299Cys
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly335Cys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-6471270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471270
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471270
    reference: chr 12
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.321G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1339G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.822G>A
  hgvsp: ENST00000358945.3:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-62G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.822G>A
  hgvsp: ENST00000228916.2:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.822G>A
  hgvsp: ENST00000396966.2:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.69G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.999G>A
  hgvsp: ENST00000360168.3:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.891G>A
  hgvsp: ENST00000543768.1:c.891G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5710G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr333Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

12-6471277-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471277
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471278
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-70dupG
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.814dupG
  hgvsp: ENSP00000351825.3:p.Glu272GlyfsTer39
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.883dupG
  hgvsp: ENSP00000438739.1:p.Glu295GlyfsTer39
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.814dupG
  hgvsp: ENSP00000380166.2:p.Glu272GlyfsTer39
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1331dupG
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.313dupG
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.814dupG
  hgvsp: ENSP00000228916.2:p.Glu272GlyfsTer39
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.991dupG
  hgvsp: ENSP00000353292.3:p.Glu331GlyfsTer39
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5718dupG
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.61dupG
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu331GlyfsTer39
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-6471281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471281
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471281
    reference: chr 12
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.811G>A
  hgvsp: ENSP00000380166.2:p.Glu271Lys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1328G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.880G>A
  hgvsp: ENSP00000438739.1:p.Glu294Lys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.58G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.811G>A
  hgvsp: ENSP00000351825.3:p.Glu271Lys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.811G>A
  hgvsp: ENSP00000228916.2:p.Glu271Lys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.988G>A
  hgvsp: ENSP00000353292.3:p.Glu330Lys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-73G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.310G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5721G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu330Lys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-6471287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471287
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471287
    reference: chr 12
allele count: 17
allele frequency: 1.400767950429294e-4
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.805T>C
  hgvsp: ENSP00000228916.2:p.Ser269Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.982T>C
  hgvsp: ENSP00000353292.3:p.Ser328Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.304T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5727T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.874T>C
  hgvsp: ENSP00000438739.1:p.Ser292Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-79T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1322T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.805T>C
  hgvsp: ENSP00000351825.3:p.Ser269Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.805T>C
  hgvsp: ENSP00000380166.2:p.Ser269Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.52T>C
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser328Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-6471295-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471295
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471295
    reference: chr 12
allele count: 10
allele frequency: 8.238861059847087e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.974C>G
  hgvsp: ENSP00000353292.3:p.Thr325Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.797C>G
  hgvsp: ENSP00000351825.3:p.Thr266Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.797C>G
  hgvsp: ENSP00000380166.2:p.Thr266Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.866C>G
  hgvsp: ENSP00000438739.1:p.Thr289Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-87C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.797C>G
  hgvsp: ENSP00000228916.2:p.Thr266Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5735C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.296C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.44C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1314C>G
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr325Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-6471300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471300
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471300
    reference: chr 12
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.969A>G
  hgvsp: ENST00000360168.3:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.291A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.792A>G
  hgvsp: ENST00000358945.3:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.792A>G
  hgvsp: ENST00000396966.2:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.861A>G
  hgvsp: ENST00000543768.1:c.861A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-92A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.39A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.792A>G
  hgvsp: ENST00000228916.2:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1309A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5740A>G
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro323Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-6471304-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471304
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471304
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5744T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.965T>C
  hgvsp: ENSP00000353292.3:p.Leu322Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.857T>C
  hgvsp: ENSP00000438739.1:p.Leu286Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.788T>C
  hgvsp: ENSP00000351825.3:p.Leu263Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.788T>C
  hgvsp: ENSP00000228916.2:p.Leu263Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.788T>C
  hgvsp: ENSP00000380166.2:p.Leu263Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.35T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1305T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-96T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.287T>C
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu322Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-6471309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471309
    reference: chr 12
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.783G>A
  hgvsp: ENST00000228916.2:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.852G>A
  hgvsp: ENST00000543768.1:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1300G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-101G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.960G>A
  hgvsp: ENST00000360168.3:c.960G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.783G>A
  hgvsp: ENST00000358945.3:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.30G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.282G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.783G>A
  hgvsp: ENST00000396966.2:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5749G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser320Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-6471314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471314
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471314
    reference: chr 12
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.778C>T
  hgvsp: ENST00000396966.2:c.778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.778C>T
  hgvsp: ENST00000228916.2:c.778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.25C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.778C>T
  hgvsp: ENST00000358945.3:c.778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.847C>T
  hgvsp: ENST00000543768.1:c.847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1295C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.955C>T
  hgvsp: ENST00000360168.3:c.955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5754C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-106C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.277C>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu319Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

12-6471321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471321
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471321
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-113C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.18C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.270C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.771C>T
  hgvsp: ENST00000396966.2:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5761C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.771C>T
  hgvsp: ENST00000228916.2:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1288C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.948C>T
  hgvsp: ENST00000360168.3:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.771C>T
  hgvsp: ENST00000358945.3:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.840C>T
  hgvsp: ENST00000543768.1:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile316Ile
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-6471323-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471323
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471323
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.838A>C
  hgvsp: ENSP00000438739.1:p.Ile280Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5763A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.16A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.769A>C
  hgvsp: ENSP00000380166.2:p.Ile257Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-115A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.769A>C
  hgvsp: ENSP00000228916.2:p.Ile257Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.946A>C
  hgvsp: ENSP00000353292.3:p.Ile316Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.268A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1286A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.769A>C
  hgvsp: ENSP00000351825.3:p.Ile257Leu
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile316Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-6471325-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471325
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471325
    reference: chr 12
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.266A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.836A>G
  hgvsp: ENSP00000438739.1:p.Tyr279Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.14A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.767A>G
  hgvsp: ENSP00000380166.2:p.Tyr256Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5765A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1284A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.767A>G
  hgvsp: ENSP00000228916.2:p.Tyr256Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.767A>G
  hgvsp: ENSP00000351825.3:p.Tyr256Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-117A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.944A>G
  hgvsp: ENSP00000353292.3:p.Tyr315Cys
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37357
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr315Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-6471334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471334
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471334
    reference: chr 12
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5774G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.827G>A
  hgvsp: ENSP00000438739.1:p.Arg276His
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.758G>A
  hgvsp: ENSP00000228916.2:p.Arg253His
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1275G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.935G>A
  hgvsp: ENSP00000353292.3:p.Arg312His
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.257G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-126G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.758G>A
  hgvsp: ENSP00000380166.2:p.Arg253His
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.758G>A
  hgvsp: ENSP00000351825.3:p.Arg253His
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.5G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg312His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

12-6471335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471335
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471335
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.757C>T
  hgvsp: ENSP00000228916.2:p.Arg253Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1274C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.826C>T
  hgvsp: ENSP00000438739.1:p.Arg276Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5775C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.757C>T
  hgvsp: ENSP00000380166.2:p.Arg253Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.757C>T
  hgvsp: ENSP00000351825.3:p.Arg253Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.934C>T
  hgvsp: ENSP00000353292.3:p.Arg312Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.4C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.256C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-127C>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg312Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-6471337-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471337
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471337
    reference: chr 12
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.2A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.254A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.932A>G
  hgvsp: ENSP00000353292.3:p.Tyr311Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.755A>G
  hgvsp: ENSP00000228916.2:p.Tyr252Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.824A>G
  hgvsp: ENSP00000438739.1:p.Tyr275Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5777A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.755A>G
  hgvsp: ENSP00000380166.2:p.Tyr252Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.755A>G
  hgvsp: ENSP00000351825.3:p.Tyr252Cys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1272A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-129A>G
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr311Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum

12-6471337-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471337
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471336
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.253delT
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.823delT
  hgvsp: ENSP00000438739.1:p.Tyr275ThrfsTer79
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.754delT
  hgvsp: ENSP00000380166.2:p.Tyr252ThrfsTer79
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5778delT
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000541249
  gene symbol: SCNN1A
  hgvsc: ENST00000541249.1:n.1delT
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.754delT
  hgvsp: ENSP00000351825.3:p.Tyr252ThrfsTer79
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1271delT
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.754delT
  hgvsp: ENSP00000228916.2:p.Tyr252ThrfsTer79
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-130delT
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.931delT
  hgvsp: ENSP00000353292.3:p.Tyr311ThrfsTer79
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr311ThrfsTer79
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: TA
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-6471344-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471344
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471344
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.817G>T
  hgvsp: ENSP00000438739.1:p.Glu273Ter
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.748G>T
  hgvsp: ENSP00000380166.2:p.Glu250Ter
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.925G>T
  hgvsp: ENSP00000353292.3:p.Glu309Ter
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.748G>T
  hgvsp: ENSP00000351825.3:p.Glu250Ter
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-136G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.247G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1265G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.748G>T
  hgvsp: ENSP00000228916.2:p.Glu250Ter
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5784G>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu309Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-6471346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471346
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471346
    reference: chr 12
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.815G>A
  hgvsp: ENSP00000438739.1:p.Arg272Lys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5786G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.245G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.746G>A
  hgvsp: ENSP00000380166.2:p.Arg249Lys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1263G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.746G>A
  hgvsp: ENSP00000228916.2:p.Arg249Lys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.746G>A
  hgvsp: ENSP00000351825.3:p.Arg249Lys
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-138G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.923G>A
  hgvsp: ENSP00000353292.3:p.Arg308Lys
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg308Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-6471351-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471351
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471351
    reference: chr 12
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.918G>A
  hgvsp: ENST00000360168.3:c.918G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-143G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.810G>A
  hgvsp: ENST00000543768.1:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.741G>A
  hgvsp: ENST00000228916.2:c.741G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5791G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.240G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.741G>A
  hgvsp: ENST00000358945.3:c.741G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1258G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.741G>A
  hgvsp: ENST00000396966.2:c.741G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37353
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala306Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum

12-6471352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471352
    reference: chr 12
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.809C>T
  hgvsp: ENSP00000438739.1:p.Ala270Val
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.740C>T
  hgvsp: ENSP00000351825.3:p.Ala247Val
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.740C>T
  hgvsp: ENSP00000228916.2:p.Ala247Val
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.917C>T
  hgvsp: ENSP00000353292.3:p.Ala306Val
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5792C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.239C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-144C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1257C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.740C>T
  hgvsp: ENSP00000380166.2:p.Ala247Val
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala306Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-6471364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471364
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471364
    reference: chr 12
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.797C>T
  hgvsp: ENSP00000438739.1:p.Ser266Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.905C>T
  hgvsp: ENSP00000353292.3:p.Ser302Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.728C>T
  hgvsp: ENSP00000380166.2:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5804C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.728C>T
  hgvsp: ENSP00000351825.3:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.728C>T
  hgvsp: ENSP00000228916.2:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1245C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.227C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-156C>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser302Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS

12-6471365-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471365
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.226T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.727T>C
  hgvsp: ENSP00000228916.2:p.Ser243Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.796T>C
  hgvsp: ENSP00000438739.1:p.Ser266Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.727T>C
  hgvsp: ENSP00000351825.3:p.Ser243Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.727T>C
  hgvsp: ENSP00000380166.2:p.Ser243Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5805T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.904T>C
  hgvsp: ENSP00000353292.3:p.Ser302Pro
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1244T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-157T>C
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser302Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-6471380-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471380
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.781T>C
  hgvsp: ENSP00000438739.1:p.Tyr261His
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.712T>C
  hgvsp: ENSP00000228916.2:p.Tyr238His
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.712T>C
  hgvsp: ENSP00000380166.2:p.Tyr238His
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.211T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-172T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5820T>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.712T>C
  hgvsp: ENSP00000351825.3:p.Tyr238His
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.889T>C
  hgvsp: ENSP00000353292.3:p.Tyr297His
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1229T>C
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr297His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-6471386-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471386
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471386
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.775T>G
  hgvsp: ENSP00000438739.1:p.Cys259Gly
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5826T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.706T>G
  hgvsp: ENSP00000228916.2:p.Cys236Gly
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.706T>G
  hgvsp: ENSP00000351825.3:p.Cys236Gly
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.205T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.883T>G
  hgvsp: ENSP00000353292.3:p.Cys295Gly
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.706T>G
  hgvsp: ENSP00000380166.2:p.Cys236Gly
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-178T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1223T>G
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys295Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-6471390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471390
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471390
    reference: chr 12
allele count: 5
allele frequency: 4.119023297195769e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.702G>A
  hgvsp: ENST00000396966.2:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.702G>A
  hgvsp: ENST00000228916.2:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1219G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-182G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.201G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.879G>A
  hgvsp: ENST00000360168.3:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.702G>A
  hgvsp: ENST00000358945.3:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5830G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.771G>A
  hgvsp: ENST00000543768.1:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser293Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

12-6471391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471391
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471391
    reference: chr 12
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-183C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.701C>T
  hgvsp: ENSP00000380166.2:p.Ser234Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5831C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.770C>T
  hgvsp: ENSP00000438739.1:p.Ser257Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.200C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.701C>T
  hgvsp: ENSP00000228916.2:p.Ser234Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.878C>T
  hgvsp: ENSP00000353292.3:p.Ser293Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1218C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.701C>T
  hgvsp: ENSP00000351825.3:p.Ser234Leu
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser293Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-6471397-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471397
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471397
    reference: chr 12
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.695A>G
  hgvsp: ENSP00000351825.3:p.Asn232Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-189A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.764A>G
  hgvsp: ENSP00000438739.1:p.Asn255Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1212A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.194A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.872A>G
  hgvsp: ENSP00000353292.3:p.Asn291Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5837A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.695A>G
  hgvsp: ENSP00000380166.2:p.Asn232Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.695A>G
  hgvsp: ENSP00000228916.2:p.Asn232Ser
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn291Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-6471422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471422
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471422
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.685-15A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.184-15A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.685-15A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5862A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-199-15A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.685-15A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1187A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.754-15A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.862-15A>G
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-6471425-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471425
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471425
    reference: chr 12
allele count: 19
allele frequency: 1.565538380409347e-4
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.685-18T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.685-18T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.184-18T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1184T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5865T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.685-18T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.754-18T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-199-18T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.862-18T>G
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-6471439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471439
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471439
    reference: chr 12
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.685-32G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.862-32G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.685-32G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1170G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5879G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.685-32G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.754-32G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-199-32G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.184-32G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37335
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-6471440-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471440
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471440
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1169C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.685-33C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-199-33C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.685-33C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5880C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.685-33C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.862-33C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.754-33C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.184-33C>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-6471445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471445
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471445
    reference: chr 12
allele count: 3
allele frequency: 2.472513887286333e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.862-38G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1164G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.685-38G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.184-38G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.754-38G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.685-38G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.685-38G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5885G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-199-38G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-6471445-CGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471445
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471442
    reference: chr 12
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.685-41_685-39delCCC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.685-41_685-39delCCC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.754-41_754-39delCCC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-199-41_-199-39delCCC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.184-41_184-39delCCC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5888_83-5886delCCC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1161_684+1163delCCC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.862-41_862-39delCCC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.685-41_685-39delCCC
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: CGGG
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

12-6471446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471446
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471446
    reference: chr 12
allele count: 68
allele frequency: 5.604826744914444e-4
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5886C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.184-39C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.685-39C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.685-39C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1163C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.862-39C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.754-39C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.685-39C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-199-39C>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

12-6471451-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471451
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471451
    reference: chr 12
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1158A>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.685-44A>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.754-44A>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-199-44A>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.685-44A>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.862-44A>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.685-44A>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.184-44A>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5891A>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-6471455-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471455
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471455
    reference: chr 12
allele count: 4
allele frequency: 3.299077907724791e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.184-48G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-199-48G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.685-48G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.754-48G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.862-48G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.685-48G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1154G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.685-48G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5895G>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-6471458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6471458
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6471458
    reference: chr 12
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.184-51G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.862-51G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.685-51G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.754-51G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+1151G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.685-51G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-199-51G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-5898G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.685-51G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/12-6472560-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472560
    reference: chr 12
allele count: 1
allele frequency: 2.50501002004008e-4
allele num: 3992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+49G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+49G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7000G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+49G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+49G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+49G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+49G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+49G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+49G>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

12-6472578-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472578
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472578
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 5606
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+31C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+31C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+31C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+31C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+31C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+31C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+31C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7018C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+31C>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33341
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15576
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30885
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/12-6472588-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472588
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472588
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 7598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+21G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+21G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7028G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+21G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+21G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+21G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+21G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+21G>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+21G>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19630
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

12-6472590-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472590
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472590
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 7726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7030A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+19A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+19A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+19A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+19A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+19A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+19A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+19A>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+19A>C
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30431
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

12-6472591-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472591
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472591
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 7960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+18G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+18G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+18G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7031G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+18G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+18G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+18G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+18G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+18G>C
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21818
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-6472591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472591
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472591
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 7960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+18G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+18G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+18G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+18G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+18G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+18G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+18G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+18G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7031G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29860
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

12-6472596-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472596
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472597
    reference: chr 12
allele count: 10
allele frequency: 1.004621257785815e-3
allele num: 9954
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+12dupA
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+12dupA
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+12dupA
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+12dupA
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+12dupA
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+12dupA
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+12dupA
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7037dupA
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+12dupA
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26433
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24683
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-6472596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472596
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472596
    reference: chr 12
allele count: 1
allele frequency: 1.004621257785815e-4
allele num: 9954
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+13G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+13G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7036G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+13G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+13G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+13G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+13G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+13G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+13G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-6472598-G-GCGGGCCTCACCAGCTGGAAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472598
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472619
    reference: chr 12
allele count: 1
allele frequency: 9.184423218221895e-5
allele num: 10888
alternate allele: GCGGGCCTCACCAGCTGGAAGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22922
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

12-6472600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472600
    reference: chr 12
allele count: 188
allele frequency: 1.453533323024586e-2
allele num: 12934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+9C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+9C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7040C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+9C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+9C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+9C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+9C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+9C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+9C>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20686
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 1.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 30972
  bin: 7.5e0
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 19888
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 12
num of homozygotes: 5
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-6472601-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472601
    reference: chr 12
allele count: 1
allele frequency: 6.98616738857063e-5
allele num: 14314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+8C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+8C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+8C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+8C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+8C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+8C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+8C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7041C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+8C>G
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
hgvs: c.861+8C>G
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

12-6472602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472602
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472602
    reference: chr 12
allele count: 1
allele frequency: 6.603275224511358e-5
allele num: 15144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+7C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+7C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+7C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+7C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+7C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+7C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+7C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7042C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+7C>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
hgvs: c.861+7C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

12-6472603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472603
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472603
    reference: chr 12
allele count: 1
allele frequency: 6.2625250501002e-5
allele num: 15968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7043G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-200+6G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.684+6G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.684+6G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.684+6G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.684+6G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.753+6G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.861+6G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.183+6G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17002
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 1.75e1
  variant carriers: 0
hgvs: c.861+6G>A
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-6472611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472611
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472611
    reference: chr 12
allele count: 2
allele frequency: 7.847445656438829e-5
allele num: 25486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.181C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.682C>T
  hgvsp: ENST00000358945.3:c.682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.682C>T
  hgvsp: ENST00000396966.2:c.682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7051C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.682C>T
  hgvsp: ENST00000228916.2:c.682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.682C>T
  hgvsp: ENST00000338748.5:c.682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-202C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.751C>T
  hgvsp: ENST00000543768.1:c.751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.859C>T
  hgvsp: ENST00000360168.3:c.859C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35259
  bin: 2.25e1
  variant carriers: 0
hgvs: c.859C>T
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

12-6472615-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472615
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472615
    reference: chr 12
allele count: 1
allele frequency: 3.01659125188537e-5
allele num: 33150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-206C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.678C>A
  hgvsp: ENSP00000351825.3:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.855C>A
  hgvsp: ENSP00000353292.3:p.Phe285Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.177C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7055C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.678C>A
  hgvsp: ENSP00000380166.2:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.678C>A
  hgvsp: ENSP00000345028.5:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.747C>A
  hgvsp: ENSP00000438739.1:p.Phe249Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.678C>A
  hgvsp: ENSP00000228916.2:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe285Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-6472620-CGAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472617
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 43284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.670_672delATC
  hgvsp: ENSP00000345028.5:p.Ile224del
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.670_672delATC
  hgvsp: ENSP00000380166.2:p.Ile224del
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.739_741delATC
  hgvsp: ENSP00000438739.1:p.Ile247del
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.670_672delATC
  hgvsp: ENSP00000228916.2:p.Ile224del
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.169_171delATC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-214_-212delATC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7063_83-7061delATC
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.670_672delATC
  hgvsp: ENSP00000351825.3:p.Ile224del
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.847_849delATC
  hgvsp: ENSP00000353292.3:p.Ile283del
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32976
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14924
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile283del
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: CGAT
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

12-6472621-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472621
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472621
    reference: chr 12
allele count: 1
allele frequency: 2.179123992155154e-5
allele num: 45890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.672C>A
  hgvsp: ENST00000358945.3:c.672C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.672C>A
  hgvsp: ENST00000396966.2:c.672C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-212C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.672C>A
  hgvsp: ENST00000228916.2:c.672C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7061C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.171C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.741C>A
  hgvsp: ENST00000543768.1:c.741C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.849C>A
  hgvsp: ENST00000360168.3:c.849C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.672C>A
  hgvsp: ENST00000338748.5:c.672C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32152
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile283Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-6472624-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472624
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472624
    reference: chr 12
allele count: 1
allele frequency: 1.960861210243539e-5
allele num: 50998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.669G>C
  hgvsp: ENSP00000351825.3:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.669G>C
  hgvsp: ENSP00000345028.5:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.669G>C
  hgvsp: ENSP00000228916.2:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7064G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.669G>C
  hgvsp: ENSP00000380166.2:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.738G>C
  hgvsp: ENSP00000438739.1:p.Lys246Asn
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.168G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-215G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.846G>C
  hgvsp: ENSP00000353292.3:p.Lys282Asn
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys282Asn
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-6472630-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472630
    reference: chr 12
allele count: 2
allele frequency: 3.29663084327817e-5
allele num: 60668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.663C>G
  hgvsp: ENSP00000345028.5:p.Asp221Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.732C>G
  hgvsp: ENSP00000438739.1:p.Asp244Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.663C>G
  hgvsp: ENSP00000228916.2:p.Asp221Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.162C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.663C>G
  hgvsp: ENSP00000380166.2:p.Asp221Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.840C>G
  hgvsp: ENSP00000353292.3:p.Asp280Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7070C>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.663C>G
  hgvsp: ENSP00000351825.3:p.Asp221Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-221C>G
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp280Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

12-6472634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472634
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472634
    reference: chr 12
allele count: 1
allele frequency: 1.470285529449819e-5
allele num: 68014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.659A>G
  hgvsp: ENSP00000351825.3:p.Lys220Arg
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.659A>G
  hgvsp: ENSP00000380166.2:p.Lys220Arg
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.659A>G
  hgvsp: ENSP00000345028.5:p.Lys220Arg
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.158A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7074A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.836A>G
  hgvsp: ENSP00000353292.3:p.Lys279Arg
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-225A>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.728A>G
  hgvsp: ENSP00000438739.1:p.Lys243Arg
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.659A>G
  hgvsp: ENSP00000228916.2:p.Lys220Arg
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26649
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys279Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

12-6472639-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472639
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472639
    reference: chr 12
allele count: 30
allele frequency: 4.014129736673089e-4
allele num: 74736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.654C>A
  hgvsp: ENSP00000351825.3:p.Asp218Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.654C>A
  hgvsp: ENSP00000345028.5:p.Asp218Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.153C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-230C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7079C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.723C>A
  hgvsp: ENSP00000438739.1:p.Asp241Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.654C>A
  hgvsp: ENSP00000380166.2:p.Asp218Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.654C>A
  hgvsp: ENSP00000228916.2:p.Asp218Glu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.831C>A
  hgvsp: ENSP00000353292.3:p.Asp277Glu
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20667
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29495
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp277Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-6472641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472641
    reference: chr 12
allele count: 4
allele frequency: 5.224387440572593e-5
allele num: 76564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.652G>A
  hgvsp: ENSP00000345028.5:p.Asp218Asn
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.652G>A
  hgvsp: ENSP00000228916.2:p.Asp218Asn
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.151G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.652G>A
  hgvsp: ENSP00000380166.2:p.Asp218Asn
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7081G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.829G>A
  hgvsp: ENSP00000353292.3:p.Asp277Asn
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-232G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.721G>A
  hgvsp: ENSP00000438739.1:p.Asp241Asn
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.652G>A
  hgvsp: ENSP00000351825.3:p.Asp218Asn
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30163
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp277Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-6472644-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472644
    reference: chr 12
allele count: 2
allele frequency: 2.525890376357666e-5
allele num: 79180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7084G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.718G>C
  hgvsp: ENSP00000438739.1:p.Val240Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.649G>C
  hgvsp: ENSP00000345028.5:p.Val217Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.826G>C
  hgvsp: ENSP00000353292.3:p.Val276Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-235G>C
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.649G>C
  hgvsp: ENSP00000380166.2:p.Val217Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.649G>C
  hgvsp: ENSP00000228916.2:p.Val217Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.649G>C
  hgvsp: ENSP00000351825.3:p.Val217Leu
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.148G>C
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31076
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val276Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-6472645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472645
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472645
    reference: chr 12
allele count: 1
allele frequency: 1.246043810900391e-5
allele num: 80254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.648G>A
  hgvsp: ENST00000396966.2:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-236G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.648G>A
  hgvsp: ENST00000358945.3:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.825G>A
  hgvsp: ENST00000360168.3:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.648G>A
  hgvsp: ENST00000228916.2:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.717G>A
  hgvsp: ENST00000543768.1:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.147G>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.648G>A
  hgvsp: ENST00000338748.5:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7085G>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln275Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-6472650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472650
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472650
    reference: chr 12
allele count: 1
allele frequency: 1.184048498626504e-5
allele num: 84456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.643C>T
  hgvsp: ENSP00000228916.2:p.Pro215Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.142C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.643C>T
  hgvsp: ENSP00000351825.3:p.Pro215Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.712C>T
  hgvsp: ENSP00000438739.1:p.Pro238Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.820C>T
  hgvsp: ENSP00000353292.3:p.Pro274Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.643C>T
  hgvsp: ENSP00000345028.5:p.Pro215Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.643C>T
  hgvsp: ENSP00000380166.2:p.Pro215Ser
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7090C>T
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-241C>T
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro274Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

12-6472650-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472650
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472650
    reference: chr 12
allele count: 1
allele frequency: 1.184048498626504e-5
allele num: 84456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.643C>A
  hgvsp: ENSP00000351825.3:p.Pro215Thr
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-241C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.820C>A
  hgvsp: ENSP00000353292.3:p.Pro274Thr
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.712C>A
  hgvsp: ENSP00000438739.1:p.Pro238Thr
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.643C>A
  hgvsp: ENSP00000228916.2:p.Pro215Thr
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.643C>A
  hgvsp: ENSP00000380166.2:p.Pro215Thr
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.643C>A
  hgvsp: ENSP00000345028.5:p.Pro215Thr
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7090C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.142C>A
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro274Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-6472664-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472664
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472664
    reference: chr 12
allele count: 2
allele frequency: 2.187705097352877e-5
allele num: 91420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000438739
  ensembl transcript: ENST00000543768
  gene symbol: SCNN1A
  hgvsc: ENST00000543768.1:c.698T>G
  hgvsp: ENSP00000438739.1:p.Leu233Trp
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.629T>G
  hgvsp: ENSP00000228916.2:p.Leu210Trp
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.629T>G
  hgvsp: ENSP00000351825.3:p.Leu210Trp
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000538979
  gene symbol: SCNN1A
  hgvsc: ENST00000538979.1:n.83-7104T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000440876
  ensembl transcript: ENST00000540037
  gene symbol: SCNN1A
  hgvsc: ENST00000540037.1:c.-255T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000380166
  ensembl transcript: ENST00000396966
  gene symbol: SCNN1A
  hgvsc: ENST00000396966.2:c.629T>G
  hgvsp: ENSP00000380166.2:p.Leu210Trp
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.629T>G
  hgvsp: ENSP00000345028.5:p.Leu210Trp
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.128T>G
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.806T>G
  hgvsp: ENSP00000353292.3:p.Leu269Trp
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33784
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu269Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-6472666-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6472666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6472666
    reference: chr 12
allele count: 1
allele frequency: 1.087807849621443e-5
allele num: 91928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000345028
  ensembl transcript: ENST00000338748
  gene symbol: SCNN1A
  hgvsc: ENST00000338748.5:c.627C>A
  hgvsp: ENSP00000345028.5:p.Ser209Arg
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000351825
  ensembl transcript: ENST00000358945
  gene symbol: SCNN1A
  hgvsc: ENST00000358945.3:c.627C>A
  hgvsp: ENSP00000351825.3:p.Ser209Arg
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000353292
  ensembl transcript: ENST00000360168
  gene symbol: SCNN1A
  hgvsc: ENST00000360168.3:c.804C>A
  hgvsp: ENSP00000353292.3:p.Ser268Arg
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111319
  ensembl transcript: ENST00000542966
  gene symbol: SCNN1A
  hgvsc: ENST00000542966.1:n.126C>A
  variant of: http://identifiers.org/hgnc/10599
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111319
  ensembl protein: ENSP00000228916
  ensembl transcript: ENST00000228916
  gene symbol: SCNN1A
  hgvsc: ENST00000228916.2:c.627C>A
  hgvsp: ENSP00000228916.2:p.Ser209Arg
  variant of: http://identifiers.org/hgnc/10599
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ser268Arg
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 239
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7281
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32388
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730103806228374e-5
allele num: 57800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.767897513187641e-4
allele num: 7962
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.531004808909137e-4
allele num: 7902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4250
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.424e0

VQSLOD
type: SiteQuality
SIO_000300: -2.16e2

MQ
type: SiteQuality
SIO_000300: 5.889e1

FS
type: SiteQuality
SIO_000300: 2.13574e2

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.905e0

DP
type: SiteQuality
SIO_000300: 3.312946e6

QD
type: SiteQuality
SIO_000300: 5.1e0

GenotypeQuality
all individuals: 1953
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38181
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4349
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 16
allele frequency: 1.54053533602927e-3
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.584e0

VQSLOD
type: SiteQuality
SIO_000300: -1.117e0

FS
type: SiteQuality
SIO_000300: 1.5819e1

DP
type: SiteQuality
SIO_000300: 3.119708e6

QD
type: SiteQuality
SIO_000300: 1.471e1

GenotypeQuality
all individuals: 36546
bin: 9.75e1
variant carriers: 49

GenotypeQuality
all individuals: 187
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2090
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3362
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1912
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4324
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1024
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 178
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3074
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 188
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3601
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2997
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 10
allele frequency: 1.012145748987854e-3
allele num: 9880
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.401360544217687e-3
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.529231241368728e-4
allele num: 65170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 36
allele frequency: 5.827128520556815e-3
allele num: 6178
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.12e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.637e0

DP
type: SiteQuality
SIO_000300: 3.079973e6

MQ
type: SiteQuality
SIO_000300: 5.871e1

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e0

FS
type: SiteQuality
SIO_000300: 1.51811e2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.707e0

QD
type: SiteQuality
SIO_000300: 7.45e0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37388
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 91
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3244
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3707
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3511
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.701161499444761e-4
allele num: 66638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.544077552256892e-4
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 10
allele frequency: 9.635767970707265e-4
allele num: 10378
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.913e0

FS
type: SiteQuality
SIO_000300: 6.897e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.4e-1

DP
type: SiteQuality
SIO_000300: 3.055664e6

VQSLOD
type: SiteQuality
SIO_000300: -2.726e1

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeQuality
all individuals: 69
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3712
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3256
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5032
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3309
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37356
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2071
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.399952000959981e-4
allele num: 66668
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.367e0

DP
type: SiteQuality
SIO_000300: 3.056758e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

FS
type: SiteQuality
SIO_000300: 1.241e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

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

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

GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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MQ
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FS
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QD
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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SIO_000300: 3.41e-1

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

East Asian
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European (Non-Finnish)
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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

Latino
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allele frequency: 0.0e0
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Other
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South Asian
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66696
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

East Asian
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allele num: 8652
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

African
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allele count: 17
allele frequency: 1.634929794191191e-3
allele num: 10398
num of homozygotes: 0

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

VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.955e1

ReadPosRankSum
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FS
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.049223574554829e-4
allele num: 66716
num of homozygotes: 0

Other
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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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African
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

South Asian
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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FS
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

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

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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allele num: 66718
num of homozygotes: 0

Other
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Latino
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
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African
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East Asian
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South Asian
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European (Finnish)
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Other
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Latino
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ReadPosRankSum
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MQ
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VQSLOD
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FS
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 3.34e-1

DP
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SIO_000300: 3.057213e6

ClippingRankSum
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SIO_000300: -4.33e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele count: 6
allele frequency: 8.991727610598249e-5
allele num: 66728
num of homozygotes: 0

East 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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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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QD
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FS
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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

Other
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

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

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

European (Finnish)
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num of homozygotes: 0

South Asian
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allele num: 16512
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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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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allele frequency: 2.31107002542177e-4
allele num: 8654
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African
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Other
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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FS
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ClippingRankSum
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DP
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

African
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South Asian
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allele num: 16512
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East Asian
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allele frequency: 0.0e0
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Latino
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Other
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num of homozygotes: 0

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

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

European (Finnish)
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Other
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

Latino
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FS
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MQRankSum
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QD
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66730
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Latino
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East Asian
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Other
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South Asian
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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allele frequency: 1.921968095329617e-4
allele num: 10406
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Latino
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European (Non-Finnish)
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allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

East Asian
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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: 3
allele frequency: 4.495863805299125e-5
allele num: 66728
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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Latino
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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DP
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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European (Non-Finnish)
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allele num: 66728
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East Asian
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European (Finnish)
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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Latino
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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Other
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MQRankSum
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MQ
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FS
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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African
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East Asian
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European (Non-Finnish)
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Other
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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East Asian
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Other
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African
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European (Finnish)
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MQRankSum
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VQSLOD
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QD
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FS
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SIO_000300: 1.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 3.056321e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.366e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.246e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

DP
type: SiteQuality
SIO_000300: 3.056407e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

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

GenotypeQuality
all individuals: 2049
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.06e-1

DP
type: SiteQuality
SIO_000300: 3.056096e6

VQSLOD
type: SiteQuality
SIO_000300: -6.505e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.316e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

QD
type: SiteQuality
SIO_000300: 1.239e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.165e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.056071e6

FS
type: SiteQuality
SIO_000300: 1.645e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.173e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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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
all individuals: 3325
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variant carriers: 0

GenotypeQuality
all individuals: 3522
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.865e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.054961e6

QD
type: SiteQuality
SIO_000300: 1.716e1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 19

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5122
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 18
allele frequency: 1.090116279069767e-3
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.409e0

DP
type: SiteQuality
SIO_000300: 3.054991e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.147e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 152
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2007
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variant carriers: 0

GenotypeQuality
all individuals: 148
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3509
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variant carriers: 0

GenotypeQuality
all individuals: 4753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 3.04699e6

QD
type: SiteQuality
SIO_000300: 1.384e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4729
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.0464e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.782e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.381e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499100179964007e-5
allele num: 66680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 3.041416e6

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 107
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variant carriers: 0

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

GenotypeQuality
all individuals: 1997
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4427
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

FS
type: SiteQuality
SIO_000300: 3.599e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

DP
type: SiteQuality
SIO_000300: 3.041416e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 68

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499640028797696e-5
allele num: 66672
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 62
allele frequency: 5.962685131756107e-3
allele num: 10398
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 3.041209e6

VQSLOD
type: SiteQuality
SIO_000300: 6.16e0

QD
type: SiteQuality
SIO_000300: 1.525e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

QD
type: SiteQuality
SIO_000300: 1.455e1

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

DP
type: SiteQuality
SIO_000300: 3.034497e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.034e1

DP
type: SiteQuality
SIO_000300: 3.031129e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.629e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.74e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.246e0

DP
type: SiteQuality
SIO_000300: 3.029269e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.509e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
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allele frequency: 7.530120481927711e-4
allele num: 1328
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.81e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.186e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

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

Other
type: Population
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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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East Asian
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allele frequency: 0.0e0
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African
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.02e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.34888e5

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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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

European (Non-Finnish)
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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

Other
type: Population
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
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FS
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MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
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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

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

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

East Asian
type: Population
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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QD
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MQ
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.024e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 2.91467e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.74e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.74e-2

QD
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SIO_000300: 6.59e0

DP
type: SiteQuality
SIO_000300: 2.91467e5

VQSLOD
type: SiteQuality
SIO_000300: -2.024e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.676470588235294e-3
allele num: 272
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
allele num: 1064
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 7.894736842105263e-3
allele num: 1140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4046
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.655e0

QD
type: SiteQuality
SIO_000300: 1.114e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.07e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 3.33946e5

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.471576866040534e-4
allele num: 4046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.114e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.07e-2

FS
type: SiteQuality
SIO_000300: 3.655e0

DP
type: SiteQuality
SIO_000300: 3.33946e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.242152466367713e-4
allele num: 4460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.54832e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.453e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.54e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.148e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -9.376e-1

QD
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 4.996e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 147

GenotypeQuality
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GenotypeQuality
all individuals: 216
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variant carriers: 7

African
type: Population
allele count: 6
allele frequency: 4.25531914893617e-3
allele num: 1410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 171
allele frequency: 3.062320916905444e-2
allele num: 5584
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 10
allele frequency: 3.246753246753246e-2
allele num: 308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3810
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.369668246445498e-3
allele num: 422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.03e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4078
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 6.756756756756757e-4
allele num: 1480
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.81e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
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SIO_000300: -1.175e0

FS
type: SiteQuality
SIO_000300: 3.424e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 4.02914e5

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.491646778042959e-4
allele num: 6704
num of homozygotes: 0

European (Finnish)
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FS
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MQ
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VQSLOD
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QD
type: SiteQuality
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DP
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1706
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
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East Asian
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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: 1
allele frequency: 1.400952647800504e-4
allele num: 7138
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.787346221441124e-4
allele num: 1138
num of homozygotes: 0

African
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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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European (Non-Finnish)
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allele frequency: 8.076239702794379e-5
allele num: 12382
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele num: 6928
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 9.45e-1

MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 256
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

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

DP
type: SiteQuality
SIO_000300: 6.89666e5

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 1.0199e1

BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.79e1

InbreedingCoeff
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SIO_000300: -1.3e-2

VQSLOD
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SIO_000300: -1.91e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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

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

East Asian
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South Asian
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allele num: 8246
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Other
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African
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allele frequency: 0.0e0
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FS
type: SiteQuality
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VQSLOD
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QD
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MQRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 28026
num of homozygotes: 0

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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num of homozygotes: 0

East Asian
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QD
type: SiteQuality
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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Latino
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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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BaseQRankSum
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MQRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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East Asian
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Latino
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InbreedingCoeff
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QD
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MQRankSum
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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DP
type: SiteQuality
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ClippingRankSum
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SIO_000300: 2.46e-1

FS
type: SiteQuality
SIO_000300: 6.211e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

QD
type: SiteQuality
SIO_000300: 1.039e1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

GenotypeQuality
all individuals: 420
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2201
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2306
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 422
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.239155541183536e-5
allele num: 43294
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 5.851e0

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.121e-1

QD
type: SiteQuality
SIO_000300: 8.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 9.5759e5

GenotypeQuality
all individuals: 526
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30681
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 468
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2446
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.908667830133799e-4
allele num: 6876
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3180
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.84e-1

DP
type: SiteQuality
SIO_000300: 9.78784e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 667
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 380
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3242
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.519338899301415e-5
allele num: 11738
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.711e-1

FS
type: SiteQuality
SIO_000300: 1.435e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 9.87823e5

QD
type: SiteQuality
SIO_000300: 6.15e0

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 293
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
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variant carriers: 0

GenotypeQuality
all individuals: 16727
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 1838
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GenotypeQuality
all individuals: 174
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 516
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.198065256599443e-5
allele num: 12198
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 8.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.021476e6

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
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variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.100575557702811e-5
allele num: 47606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12198
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

DP
type: SiteQuality
SIO_000300: 1.021476e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

QD
type: SiteQuality
SIO_000300: 8.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

GenotypeQuality
all individuals: 682
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14025
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 337
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GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.914660403210022e-5
allele num: 51090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13242
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

QD
type: SiteQuality
SIO_000300: 7.63e0

VQSLOD
type: SiteQuality
SIO_000300: -6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.079218e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 1.355e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1