http://identifiers.org/exac.variant/17-75277647-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75277647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75277647
    reference: chr 17
allele count: 1
allele frequency: 6.774149844194554e-5
allele num: 14762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.19+11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+759C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.19+11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263718
  ensembl transcript: ENST00000581153
  gene symbol: RP11-285E9.6
  hgvsc: ENST00000581153.1:n.286+47G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32903
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-75277681-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75277681
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75277681
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 13474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263718
  ensembl transcript: ENST00000581153
  gene symbol: RP11-285E9.6
  hgvsc: ENST00000581153.1:n.286+13G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+45C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.19+45C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+793C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.19+45C>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  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: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9657
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

17-75282404-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75282404
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75282404
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 22
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+5516G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.19+4768G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.19+4768G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.-29G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+4768G>T
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

17-75282410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75282410
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75282410
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 30
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+4774A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.19+4774A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+5522A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.-23A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.19+4774A>G
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
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: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS

17-75282411-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75282411
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75282411
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 30
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+5523G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+4775G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.19+4775G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.19+4775G>T
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  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: 2652
  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: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

17-75282414-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75282414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75282414
    reference: chr 17
allele count: 47
allele frequency: 9.791666666666666e-1
allele num: 48
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+4778A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+5526A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.19+4778A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.19+4778A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.5e0
  variant carriers: 995
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 388
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 19
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: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 5.25e1
  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: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.75e1
  variant carriers: 292
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.5e0
  variant carriers: 638
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 3
num of homozygotes: 23
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

17-75282426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75282426
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75282426
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 20
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+5538G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+4790G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.19+4790G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.19+4790G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
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: 5.75e1
  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: 2816
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

17-75282492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75282492
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75282492
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+4856C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+5604C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.60C>T
  hgvsp: ENST00000590576.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.19+4856C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.19+4856C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  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: 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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro20Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

17-75290947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75290947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75290947
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+13311T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.349+294T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.111T>C
  hgvsp: ENST00000591833.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-12276T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-474+6655T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+14059T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*19+8424T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-474+6651T>C
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  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: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Leu37Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-75290989-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75290989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75290989
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 6
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-474+6693A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-474+6697A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.349+336A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+13353A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+14101A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*14+4A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*19+8466A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-12234A>T
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  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: 2354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
hgvs: c.*14+4A>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

17-75290994-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75290994
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75290994
    reference: chr 17
allele count: 1
allele frequency: 2.5e-1
allele num: 4
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*19+8471A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-12229A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-474+6698A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+13358A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-474+6702A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.349+341A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+14106A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*14+9A>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 17
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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 2.25e1
  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 quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.5e0
  variant carriers: 11
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

17-75303178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303178
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303178
    reference: chr 17
allele count: 10
allele frequency: 8.317114959162966e-5
allele num: 120234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26290C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25542C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-45C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21290
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 54838
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-75303179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303179
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303179
    reference: chr 17
allele count: 20
allele frequency: 1.663616702711695e-4
allele num: 120220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-44G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-44G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25543G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26291G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-44G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-44G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-44G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-44G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21290
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

17-75303181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303181
    reference: chr 17
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26293C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-42C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-42C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-42C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25545C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-42C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-42C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-42C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21286
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54837
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-75303187-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303187
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303187
    reference: chr 17
allele count: 7
allele frequency: 5.822271018398376e-5
allele num: 120228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26299C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-36C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-36C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25551C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-36C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-36C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-36C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-36C>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21288
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-75303196-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303195
    reference: chr 17
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-25delC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-25delC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-25delC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25562delC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26310delC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-25delC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-25delC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-25delC
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54836
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: AC
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-75303202-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303202
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303202
    reference: chr 17
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26314G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-21G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-21G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-21G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-21G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25566G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-21G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-21G>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54836
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-75303204-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303204
    reference: chr 17
allele count: 3
allele frequency: 2.495342028214001e-5
allele num: 120224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26316C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25568C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-19C>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21304
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-75303204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303204
    reference: chr 17
allele count: 36
allele frequency: 2.9944104338568e-4
allele num: 120224
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25568C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26316C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-19C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21304
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-75303205-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303205
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303205
    reference: chr 17
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-18C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25569C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-18C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-18C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-18C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26317C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-18C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-18C>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21286
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-75303209-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303209
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303207
    reference: chr 17
allele count: 3
allele frequency: 2.495383540450167e-5
allele num: 120222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25577_19+25578delCT
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-10_350-9delCT
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-10_*20-9delCT
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-10_20-9delCT
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-10_-473-9delCT
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-10_*15-9delCT
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26325_31+26326delCT
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-10_-473-9delCT
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21288
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: GTC
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-75303211-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303211
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303211
    reference: chr 17
allele count: 1
allele frequency: 8.318221896887321e-6
allele num: 120218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-473-12C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26323C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25575C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.350-12C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*15-12C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*20-12C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-473-12C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.20-12C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21289
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

17-75303229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303229
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303229
    reference: chr 17
allele count: 2
allele frequency: 1.664115023630433e-5
allele num: 120184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26341C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-467C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.356C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.26C>T
  hgvsp: ENSP00000391249.1:p.Thr9Met
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*26C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25593C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-467C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21287
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr9Met
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-75303230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303230
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303230
    reference: chr 17
allele count: 4
allele frequency: 3.328230047260866e-5
allele num: 120184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.357G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.27G>A
  hgvsp: ENST00000427177.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-466G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26342G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-466G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*27G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25594G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21305
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54834
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Thr9Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-75303230-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303230
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303230
    reference: chr 17
allele count: 53
allele frequency: 4.409904812620649e-4
allele num: 120184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26342G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*22G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-466G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-466G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.357G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.27G>T
  hgvsp: ENST00000427177.1:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*27G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25594G>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21305
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr9Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

17-75303231-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303231
    reference: chr 17
allele count: 4
allele frequency: 3.328174662606294e-5
allele num: 120186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-465C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.358C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25595C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-465C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*28C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.28C>G
  hgvsp: ENSP00000391249.1:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*23C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26343C>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21279
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg10Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-75303231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303231
    reference: chr 17
allele count: 8
allele frequency: 6.656349325212588e-5
allele num: 120186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.358C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26343C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25595C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.28C>T
  hgvsp: ENSP00000391249.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-465C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-465C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21279
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54822
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg10Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

17-75303232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303232
    reference: chr 17
allele count: 1
allele frequency: 8.320852055250457e-6
allele num: 120180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-464G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-464G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25596G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.29G>A
  hgvsp: ENSP00000391249.1:p.Arg10Gln
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26344G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.359G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21273
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg10Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-75303235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303235
    reference: chr 17
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25599C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*27C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-461C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.362C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.32C>T
  hgvsp: ENSP00000391249.1:p.Thr11Ile
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-461C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26347C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr11Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-75303236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303236
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303236
    reference: chr 17
allele count: 2
allele frequency: 1.66433659543306e-5
allele num: 120168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-460C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.363C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26348C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25600C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.33C>T
  hgvsp: ENST00000427177.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-460C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr11Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

17-75303240-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303240
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303240
    reference: chr 17
allele count: 2
allele frequency: 1.664475107774763e-5
allele num: 120158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-456A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-456A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*37A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*32A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.367A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.37A>G
  hgvsp: ENSP00000391249.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25604A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26352A>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser13Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-75303243-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303243
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303243
    reference: chr 17
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-453G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26355G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*35G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.40G>T
  hgvsp: ENSP00000391249.1:p.Gly14Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*40G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-453G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25607G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.370G>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly14Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

17-75303246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303246
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303246
    reference: chr 17
allele count: 3
allele frequency: 2.497045163223519e-5
allele num: 120142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.43C>T
  hgvsp: ENSP00000391249.1:p.Arg15Trp
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26358C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-450C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-450C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25610C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*43C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.373C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg15Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-75303247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303247
    reference: chr 17
allele count: 5
allele frequency: 4.162226957911561e-5
allele num: 120128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25611G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-449G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26359G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*44G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.44G>A
  hgvsp: ENSP00000391249.1:p.Arg15Gln
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-449G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*39G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.374G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21276
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg15Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

17-75303247-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303247
    reference: chr 17
allele count: 1
allele frequency: 8.324453915823122e-6
allele num: 120128
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.44G>T
  hgvsp: ENSP00000391249.1:p.Arg15Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26359G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*39G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*44G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-449G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25611G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-449G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.374G>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg15Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-75303250-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303250
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303250
    reference: chr 17
allele count: 3
allele frequency: 2.497336174746936e-5
allele num: 120128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25614T>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*42T>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.47T>A
  hgvsp: ENSP00000391249.1:p.Leu16His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*47T>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-446T>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.377T>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-446T>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26362T>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu16His
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-75303252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303252
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303252
    reference: chr 17
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25616C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.379C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-444C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-444C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.49C>T
  hgvsp: ENSP00000391249.1:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26364C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21273
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54820
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg17Trp
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

17-75303253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303253
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303253
    reference: chr 17
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*50G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26365G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.380G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-443G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-443G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.50G>A
  hgvsp: ENSP00000391249.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25617G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54820
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg17Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-75303255-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303255
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303255
    reference: chr 17
allele count: 2
allele frequency: 1.66497394315779e-5
allele num: 120122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-441A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.52A>G
  hgvsp: ENSP00000391249.1:p.Arg18Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26367A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*52A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-441A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25619A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.382A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*47A>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21273
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg18Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

17-75303256-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303256
    reference: chr 17
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25620G>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-440G>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.53G>C
  hgvsp: ENSP00000391249.1:p.Arg18Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-440G>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.383G>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26368G>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*48G>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*53G>C
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21273
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg18Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-75303267-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303267
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303267
    reference: chr 17
allele count: 1
allele frequency: 8.326256015719971e-6
allele num: 120102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.394T>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25631T>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.64T>G
  hgvsp: ENSP00000391249.1:p.Ser22Ala
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-429T>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*59T>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-429T>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26379T>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*64T>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser22Ala
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

17-75303275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303275
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303275
    reference: chr 17
allele count: 2
allele frequency: 1.665611779206503e-5
allele num: 120076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-421C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.72C>T
  hgvsp: ENST00000427177.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*72C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.402C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-421C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25639C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26387C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21273
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54813
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly24Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-75303280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303280
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303280
    reference: chr 17
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+1G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+1G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+1G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+1G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25644G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+1G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+1G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26392G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
hgvs: c.76+1G>A
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-75303290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303290
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303290
    reference: chr 17
allele count: 2
allele frequency: 1.667055646317474e-5
allele num: 119972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+11C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+11C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26402C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+11C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+11C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25654C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+11C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+11C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

17-75303291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303291
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303291
    reference: chr 17
allele count: 4
allele frequency: 3.335278912699074e-5
allele num: 119930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+12G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+12G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+12G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26403G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25655G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+12G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+12G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+12G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-75303295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303295
    reference: chr 17
allele count: 3
allele frequency: 2.502168546073264e-5
allele num: 119896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25659C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26407C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+16C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+16C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+16C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+16C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+16C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+16C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

17-75303296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303296
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303296
    reference: chr 17
allele count: 4
allele frequency: 3.336057780520759e-5
allele num: 119902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+17G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+17G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+17G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+17G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25660G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+17G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+17G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26408G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54813
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

17-75303298-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303298
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303298
    reference: chr 17
allele count: 106222
allele frequency: 8.852718605193852e-1
allele num: 119988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25662T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+19T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+19T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+19T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26410T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+19T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+19T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+19T>C
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 9.25e1
  variant carriers: 3793
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 6.25e1
  variant carriers: 2757
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.25e1
  variant carriers: 1803
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.25e1
  variant carriers: 664
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 522
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 8.75e1
  variant carriers: 4035
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 341
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 6.75e1
  variant carriers: 3373
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 8.25e1
  variant carriers: 4260
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 7.75e1
  variant carriers: 4125
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 1296
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 5.75e1
  variant carriers: 2186
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 1073
genotype depth: GenotypeDepth
  all individuals: 21645
  bin: 9.75e1
  variant carriers: 21591
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.75e1
  variant carriers: 896
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 1017
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 7.25e1
  variant carriers: 3904
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 1427
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.25e1
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 296
num of homozygotes: 47166
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-75303299-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303299
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303299
    reference: chr 17
allele count: 1
allele frequency: 8.36946150884652e-6
allele num: 119482
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+20C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+20C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26411C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+20C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+20C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25663C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+20C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+20C>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40953
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-75303300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303300
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303300
    reference: chr 17
allele count: 1
allele frequency: 8.36988181726874e-6
allele num: 119476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26412T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+21T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+21T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25664T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+21T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+21T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+21T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+21T>C
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-75303303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303303
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303303
    reference: chr 17
allele count: 1
allele frequency: 8.37408722449253e-6
allele num: 119416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25667C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+24C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+24C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26415C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+24C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+24C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+24C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+24C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40941
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-75303315-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303315
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303315
    reference: chr 17
allele count: 1
allele frequency: 8.382932349735938e-6
allele num: 119290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+36C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+36C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+36C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+36C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25679C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26427C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+36C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+36C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40912
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

17-75303320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303320
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303320
    reference: chr 17
allele count: 5
allele frequency: 4.195123588340912e-5
allele num: 119186
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+41G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+41G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25684G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+41G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+41G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26432G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+41G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+41G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40906
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

17-75303322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75303322
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75303322
    reference: chr 17
allele count: 2
allele frequency: 1.678640972268851e-5
allele num: 119144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+43G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+43G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+43G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+26434G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+43G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+25686G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+43G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+43G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-75316362-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316362
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316362
    reference: chr 17
allele count: 5
allele frequency: 4.221404207895715e-5
allele num: 118444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39474T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38726T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13083T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+477T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13083T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13083T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13083T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13083T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13083T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+477T>C
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-75316366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316366
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316366
    reference: chr 17
allele count: 2
allele frequency: 1.691961490956466e-5
allele num: 118206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13087C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38730C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+481C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13087C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+481C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39478C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13087C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13087C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13087C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-43C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13087C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

17-75316367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316367
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316367
    reference: chr 17
allele count: 2
allele frequency: 1.691131705337212e-5
allele num: 118264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13088G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-42G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13088G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13088G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+482G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13088G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13088G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38731G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39479G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13088G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+482G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-75316371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316371
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316371
    reference: chr 17
allele count: 4
allele frequency: 3.381691522099354e-5
allele num: 118284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13092C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+486C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38735C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39483C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13092C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13092C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13092C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13092C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-38C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13092C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+486C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

17-75316372-GCCGGGACT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316372
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316364
    reference: chr 17
allele count: 1
allele frequency: 8.454228805248384e-6
allele num: 118284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-34_-27delGGGACTCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-34_-27delGGGACTCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: GCCGGGACT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

17-75316373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316373
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316373
    reference: chr 17
allele count: 3
allele frequency: 2.537427048972342e-5
allele num: 118230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+488C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13094C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13094C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13094C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39485C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-36C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13094C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13094C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+488C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38737C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13094C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

17-75316374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316374
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316374
    reference: chr 17
allele count: 6
allele frequency: 5.077344887113699e-5
allele num: 118172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13095C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13095C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13095C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-35C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13095C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13095C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+489C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38738C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13095C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39486C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+489C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

17-75316375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316375
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316375
    reference: chr 17
allele count: 5
allele frequency: 4.226971459488705e-5
allele num: 118288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39487G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13096G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13096G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13096G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+490G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38739G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-34G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+490G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13096G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13096G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13096G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

17-75316380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316380
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316380
    reference: chr 17
allele count: 1
allele frequency: 8.50152177239726e-6
allele num: 117626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+495T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-29T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38744T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39492T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13101T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13101T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+495T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-29T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13101T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13101T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13101T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13101T>C
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-75316382-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316382
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316382
    reference: chr 17
allele count: 1
allele frequency: 8.446659346228567e-6
allele num: 118390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+497C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-27C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13103C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13103C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-27C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13103C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39494C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13103C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13103C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38746C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+497C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13103C>A
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-75316383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316383
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316383
    reference: chr 17
allele count: 3
allele frequency: 2.533869387479307e-5
allele num: 118396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+498C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13104C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-26C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+498C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13104C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13104C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38747C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13104C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39495C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13104C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13104C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-75316384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316384
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316384
    reference: chr 17
allele count: 1
allele frequency: 8.445090024659663e-6
allele num: 118412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+499G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39496G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38748G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13105G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13105G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13105G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13105G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13105G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13105G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-25G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+499G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum

17-75316386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316386
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316386
    reference: chr 17
allele count: 3
allele frequency: 2.532072923700203e-5
allele num: 118480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38750C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13107C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13107C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+501C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13107C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13107C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-23C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13107C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+501C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13107C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39498C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-75316387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316387
    reference: chr 17
allele count: 9
allele frequency: 7.596475235490732e-5
allele num: 118476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+502G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13108G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+502G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13108G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-22G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13108G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13108G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13108G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38751G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39499G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-22G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13108G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-75316388-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316388
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316388
    reference: chr 17
allele count: 1
allele frequency: 8.438676140487081e-6
allele num: 118502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  hgvsc: ENST00000591833.1:c.*71+13109C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.76+13109C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.-417+13109C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  hgvsc: ENST00000590576.1:c.*76+13109C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  hgvsc: ENST00000587237.1:n.406+13109C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.-417+13109C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-21C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+503C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-21C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.19+38752C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  hgvsc: ENST00000589070.1:c.31+39500C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+503C>A
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-75316388-C-CTGCTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316388
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316393
    reference: chr 17
allele count: 1
allele frequency: 8.438676140487081e-6
allele num: 118502
alternate allele: CTGCTA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-20_-16dupTGCTA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466684
  ensembl transcript: ENST00000591833
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465600
  ensembl transcript: ENST00000590576
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468090
  ensembl transcript: ENST00000588575
  gene symbol: SEPT9
  hgvsc: ENST00000588575.1:c.36+504_36+508dupTGCTA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000587237
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.-20_-16dupTGCTA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465026
  ensembl transcript: ENST00000590595
  gene symbol: SEPT9
  hgvsc: ENST00000590595.1:c.36+504_36+508dupTGCTA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465332
  ensembl transcript: ENST00000589070
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

17-75316388-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75316388
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75316388
    reference: chr 17
allele count: 1
allele frequency: 8.438676140487081e-6
allele num: 118502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.-21C>G
  variant of: http://identifiers.org/hgnc/7323
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL96.00to97.00
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.303441084462982e-4
allele num: 7672
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.28e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 3.41319e5

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.6321e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

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

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

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

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.959999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

DP
type: SiteQuality
SIO_000300: 8.19e3

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 7.5e0
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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European (Non-Finnish)
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num of homozygotes: 0

InbreedingCoeff
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MQ
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QD
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VQSLOD
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DP
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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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East Asian
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Latino
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allele frequency: NaN
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Other
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South Asian
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African
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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 num: 4
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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FS
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QD
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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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Latino
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European (Non-Finnish)
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allele frequency: 1.0e0
allele num: 28
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South Asian
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East Asian
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allele frequency: NaN
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Other
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allele frequency: NaN
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European (Finnish)
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allele frequency: 1.0e0
allele num: 6
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African
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allele frequency: 9.285714285714286e-1
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VQSLOD
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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Other
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Latino
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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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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East Asian
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allele frequency: NaN
allele num: 0
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South Asian
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allele frequency: NaN
allele num: 0
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Other
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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: 0.0e0
allele num: 2
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Latino
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allele num: 0
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African
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 4.596e1

MQRankSum
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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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variant carriers: 2

African
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allele num: 0
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South Asian
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Latino
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European (Non-Finnish)
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allele frequency: 5.0e-1
allele num: 2
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European (Finnish)
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East Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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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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European (Non-Finnish)
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allele frequency: 3.017774692941425e-5
allele num: 66274
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East Asian
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Latino
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European (Finnish)
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South Asian
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African
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Other
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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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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Latino
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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South Asian
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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MQRankSum
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FS
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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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African
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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QD
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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MQ
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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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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

FS
type: SiteQuality
SIO_000300: 1.548e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.278e0

QD
type: SiteQuality
SIO_000300: 1.371e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 5.127829e6

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.75e1
variant carriers: 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: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66272
num of homozygotes: 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: 9740
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 5.127996e6

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.168e0

MQ
type: SiteQuality
SIO_000300: 5.998e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

GenotypeQuality
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bin: 3.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509023963300537e-5
allele num: 66268
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.231e0

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.635e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 4.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 5.128029e6

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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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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variant carriers: 3

GenotypeQuality
all individuals: 590
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variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018321209743141e-5
allele num: 66262
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 2.187e0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 8.75e0

DP
type: SiteQuality
SIO_000300: 5.129412e6

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 560
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variant carriers: 0

GenotypeQuality
all individuals: 152
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 590
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variant carriers: 0

GenotypeQuality
all individuals: 54840
bin: 9.75e1
variant carriers: 36

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.663138796492289e-3
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.621985451691769e-4
allele num: 66262
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 8.75e0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 2.187e0

DP
type: SiteQuality
SIO_000300: 5.129412e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

GenotypeQuality
all individuals: 1893
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 848
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variant carriers: 0

GenotypeQuality
all individuals: 147
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GenotypeQuality
all individuals: 338
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GenotypeQuality
all individuals: 78
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GenotypeQuality
all individuals: 557
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GenotypeQuality
all individuals: 54833
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509115054931788e-5
allele num: 66264
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: 8622
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 6.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e0

FS
type: SiteQuality
SIO_000300: 7.658e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.718e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.676e0

DP
type: SiteQuality
SIO_000300: 5.127785e6

GenotypeQuality
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bin: 2.5e0
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
all individuals: 4
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GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018412315122246e-5
allele num: 66260
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 5.12795e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.024e1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.315e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.525e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1903
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GenotypeQuality
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GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 338
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 12
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509251713000694e-5
allele num: 66258
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: 9738
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.321e0

DP
type: SiteQuality
SIO_000300: 5.127937e6

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.064e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 54833
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variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019323671497584e-5
allele num: 66240
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 4.22e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.126573e6

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.048e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.854e0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
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GenotypeQuality
all individuals: 18
bin: 5.25e1
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GenotypeQuality
all individuals: 826
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GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
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GenotypeQuality
all individuals: 36
bin: 2.75e1
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GenotypeQuality
all individuals: 42
bin: 3.25e1
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GenotypeQuality
all individuals: 558
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.038647342995169e-5
allele num: 66240
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

FS
type: SiteQuality
SIO_000300: 1.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 5.129945e6

QD
type: SiteQuality
SIO_000300: 1.131e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 53

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

African
type: Population
allele count: 52
allele frequency: 5.346493933785729e-3
allele num: 9726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509661835748792e-5
allele num: 66240
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: 6614
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

FS
type: SiteQuality
SIO_000300: 1.111e0

DP
type: SiteQuality
SIO_000300: 5.129945e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.639294827186268e-4
allele num: 8622
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 5.12672e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-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: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 7
allele frequency: 7.195723684210526e-4
allele num: 9728
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: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509661835748792e-5
allele num: 66240
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

DP
type: SiteQuality
SIO_000300: 5.12672e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 3
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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GenotypeQuality
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GenotypeQuality
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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: 12
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GenotypeQuality
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bin: 9.25e1
variant carriers: 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: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509798592867711e-5
allele num: 66234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

QD
type: SiteQuality
SIO_000300: 1.108e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.32e-2

DP
type: SiteQuality
SIO_000300: 5.125448e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

FS
type: SiteQuality
SIO_000300: 1.849e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
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bin: 2.5e0
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: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.044e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.476e0

DP
type: SiteQuality
SIO_000300: 5.124883e6

MQ
type: SiteQuality
SIO_000300: 5.491e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

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: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020053152935492e-5
allele num: 66224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.407e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.2e0

DP
type: SiteQuality
SIO_000300: 5.124845e6

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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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
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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: 8622
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Other
type: Population
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.124779e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.31e-1

QD
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
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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bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66202
num of homozygotes: 0

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

South Asian
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QD
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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DP
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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.531448250860975e-5
allele num: 66204
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
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: 6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

FS
type: SiteQuality
SIO_000300: 1.132e0

DP
type: SiteQuality
SIO_000300: 5.124304e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.023e1

GenotypeQuality
all individuals: 158
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 580
bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021604471974619e-5
allele num: 66190
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.028594939312899e-4
allele num: 9722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.172e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

FS
type: SiteQuality
SIO_000300: 1.141e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

DP
type: SiteQuality
SIO_000300: 5.123937e6

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.028594939312899e-4
allele num: 9722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66190
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 1.141e0

DP
type: SiteQuality
SIO_000300: 5.123937e6

QD
type: SiteQuality
SIO_000300: 1.172e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

GenotypeQuality
all individuals: 54821
bin: 9.75e1
variant carriers: 3

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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bin: 2.5e0
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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: 783
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GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
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: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

FS
type: SiteQuality
SIO_000300: 2.381e0

DP
type: SiteQuality
SIO_000300: 5.123166e6

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.91e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.029e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.65e-1

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

GenotypeQuality
all individuals: 166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 9
bin: 2.5e0
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.91e0

QD
type: SiteQuality
SIO_000300: 1.007e1

VQSLOD
type: SiteQuality
SIO_000300: -2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.13e-1

DP
type: SiteQuality
SIO_000300: 5.12305e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.275e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 6.25e1
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GenotypeQuality
all individuals: 24
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
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GenotypeQuality
all individuals: 780
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510756586898719e-5
allele num: 66192
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.308e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

DP
type: SiteQuality
SIO_000300: 5.12274e6

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021695775669306e-5
allele num: 66188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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: 896
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: -3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 5.122678e6

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 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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variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510802235987309e-5
allele num: 66190
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 5.12251e6

FS
type: SiteQuality
SIO_000300: 6.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

GenotypeQuality
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bin: 2.5e0
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: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 574
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GenotypeQuality
all individuals: 54816
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 1.029442042413012e-4
allele num: 9714
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66176
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.226e1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 3.169e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 5.120779e6

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

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

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

GenotypeQuality
all individuals: 35
bin: 4.25e1
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

FS
type: SiteQuality
SIO_000300: 3.937e0

DP
type: SiteQuality
SIO_000300: 5.119282e6

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

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

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

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54813
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66144
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.117594e6

FS
type: SiteQuality
SIO_000300: 3.127e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.818e0

QD
type: SiteQuality
SIO_000300: 1.042e1

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

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.25e1
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GenotypeQuality
all individuals: 588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54812
bin: 9.75e1
variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 2
allele frequency: 3.026909222992402e-5
allele num: 66074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0575e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 2.123e1

DP
type: SiteQuality
SIO_000300: 5.111896e6

VQSLOD
type: SiteQuality
SIO_000300: -1.276e0

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

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

GenotypeQuality
all individuals: 519
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54812
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028009084027252e-5
allele num: 66050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.11136e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

FS
type: SiteQuality
SIO_000300: 7.384e0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.965e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54814
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 519
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.544077552256892e-5
allele num: 66020
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

DP
type: SiteQuality
SIO_000300: 5.110056e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.137e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.728e0

GenotypeQuality
all individuals: 541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514417252241338e-5
allele num: 66032
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.154e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.983e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-1

FS
type: SiteQuality
SIO_000300: 5.374e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

DP
type: SiteQuality
SIO_000300: 5.109899e6

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 181

GenotypeQuality
all individuals: 246
bin: 6.75e1
variant carriers: 218

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 33

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 24

GenotypeQuality
all individuals: 264
bin: 6.25e1
variant carriers: 214

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 15

GenotypeQuality
all individuals: 276
bin: 7.75e1
variant carriers: 253

GenotypeQuality
all individuals: 57421
bin: 9.75e1
variant carriers: 56702

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 329

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 146

GenotypeQuality
all individuals: 225
bin: 8.75e1
variant carriers: 201

Latino
type: Population
allele count: 10589
allele frequency: 9.15528272522912e-1
allele num: 11566
num of homozygotes: 4852

East Asian
type: Population
allele count: 8529
allele frequency: 9.903622851834649e-1
allele num: 8612
num of homozygotes: 4223

Other
type: Population
allele count: 785
allele frequency: 8.780760626398211e-1
allele num: 894
num of homozygotes: 346

African
type: Population
allele count: 8807
allele frequency: 9.070030895983522e-1
allele num: 9710
num of homozygotes: 3990

South Asian
type: Population
allele count: 15464
allele frequency: 9.366444579043004e-1
allele num: 16510
num of homozygotes: 7245

European (Finnish)
type: Population
allele count: 6043
allele frequency: 9.142208774583964e-1
allele num: 6610
num of homozygotes: 2768

European (Non-Finnish)
type: Population
allele count: 56005
allele frequency: 8.474563447628847e-1
allele num: 66086
num of homozygotes: 23742

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 5.139438e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

FS
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
SIO_000300: 3.223e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
all individuals: 1497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521653123953863e-5
allele num: 65718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

DP
type: SiteQuality
SIO_000300: 3.143532e6

FS
type: SiteQuality
SIO_000300: 1.031e0

VQSLOD
type: SiteQuality
SIO_000300: -6.861e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.506e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 2.399e1

GenotypeQuality
all individuals: 2893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40950
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 347
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521792062332603e-5
allele num: 65712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.83e0

DP
type: SiteQuality
SIO_000300: 3.14329e6

MQRankSum
type: SiteQuality
SIO_000300: -1.693e0

FS
type: SiteQuality
SIO_000300: 2.776e0

VQSLOD
type: SiteQuality
SIO_000300: -2.937e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

GenotypeQuality
all individuals: 4351
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522626225714112e-5
allele num: 65676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

QD
type: SiteQuality
SIO_000300: 1.032e1

DP
type: SiteQuality
SIO_000300: 3.137948e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e0

GenotypeQuality
all individuals: 574
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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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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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 3.127406e6

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.536e0

MQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeQuality
all individuals: 107
bin: 5.75e1
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
all individuals: 77
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GenotypeQuality
all individuals: 255
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423654871546292e-4
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526344709689236e-5
allele num: 65516
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 3.119964e6

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.172e0

QD
type: SiteQuality
SIO_000300: 1.467e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
all individuals: 2036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
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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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variant carriers: 2

GenotypeQuality
all individuals: 1105
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variant carriers: 0

GenotypeQuality
all individuals: 1486
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.11875e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.305e0

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.401e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

GenotypeDepth
all individuals: 1041
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5965
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variant carriers: 1

GenotypeQuality
all individuals: 1402
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variant carriers: 0

GenotypeQuality
all individuals: 820
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.598752598752599e-4
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540072691431036e-5
allele num: 64932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

DP
type: SiteQuality
SIO_000300: 3.539486e6

QD
type: SiteQuality
SIO_000300: 1.382e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 1.708e0

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeDepth
all individuals: 2725
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3327
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variant carriers: 0

GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 301
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GenotypeQuality
all individuals: 1670
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 49021
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variant carriers: 2

GenotypeQuality
all individuals: 309
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GenotypeQuality
all individuals: 931
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 230
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GenotypeQuality
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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: 1395
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 170
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variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.087658628462037e-5
allele num: 64774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.591e0

FS
type: SiteQuality
SIO_000300: 7.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

DP
type: SiteQuality
SIO_000300: 3.53815e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

GenotypeDepth
all individuals: 2725
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1455
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 49027
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543019380323417e-5
allele num: 64808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.862e0

FS
type: SiteQuality
SIO_000300: 1.5557e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 3.538154e6

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

GenotypeDepth
all individuals: 5964
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3897
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variant carriers: 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
all individuals: 233
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GenotypeQuality
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GenotypeQuality
all individuals: 1040
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49030
bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.628343978524484e-5
allele num: 64818
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

FS
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

BaseQRankSum
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SIO_000300: -2.676e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 3.537944e6

QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
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GenotypeQuality
all individuals: 140
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 160
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GenotypeQuality
all individuals: 687
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9358
num of homozygotes: 0

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

Other
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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: 8564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64822
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

ClippingRankSum
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SIO_000300: -1.23e-1

MQ
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SIO_000300: 5.374e1

VQSLOD
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DP
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SIO_000300: 3.53816e6

FS
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InbreedingCoeff
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SIO_000300: 5.5e-3

QD
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SIO_000300: 3.63e0

BaseQRankSum
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SIO_000300: 1.36e0

MQRankSum
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SIO_000300: -5.803e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 3
allele frequency: 3.217503217503217e-4
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64806
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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

DP
type: SiteQuality
SIO_000300: 3.537847e6

QD
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ClippingRankSum
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SIO_000300: 1.93e-1

MQ
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SIO_000300: 5.96e1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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InbreedingCoeff
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SIO_000300: 5.7e-3

VQSLOD
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SIO_000300: 3.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543638665061283e-5
allele num: 64782
num of homozygotes: 0

Other
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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: 8564
num of homozygotes: 0

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

South Asian
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allele count: 5
allele frequency: 3.030670384289005e-4
allele num: 16498
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
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SIO_000300: 6.900000000000001e-2

ReadPosRankSum
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SIO_000300: 5.44e-1

MQRankSum
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SIO_000300: -9.0e-2

FS
type: SiteQuality
SIO_000300: 1.414e0

InbreedingCoeff
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SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
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SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 3.538399e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1994
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variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.169221752675899e-5
allele num: 64838
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

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

European (Finnish)
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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
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 3.3e0

VQSLOD
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SIO_000300: -1.277e0

FS
type: SiteQuality
SIO_000300: 1.3398e1

ClippingRankSum
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SIO_000300: 7.39e-1

DP
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ReadPosRankSum
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SIO_000300: -2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.367e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.043e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1017
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.549426712116517e-5
allele num: 64540
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

South Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.086e1

ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.242e0

MQRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64924
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European (Finnish)
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num of homozygotes: 0

East Asian
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.539930395146139e-5
allele num: 64938
num of homozygotes: 0

African
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East Asian
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allele num: 8578
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16504
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 233
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49058
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.14e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 3.546279e6

FS
type: SiteQuality
SIO_000300: 1.705e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

GenotypeDepth
all individuals: 3328
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49060
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.75e1
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: 0
allele frequency: 0.0e0
allele num: 65004
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.057e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

FS
type: SiteQuality
SIO_000300: 1.611e0

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.081e1

DP
type: SiteQuality
SIO_000300: 3.547374e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeDepth
all individuals: 4418
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1456
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 200
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49064
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.453223460979156e-4
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9342
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65006
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.192e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 2.694e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

DP
type: SiteQuality
SIO_000300: 3.547862e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

GenotypeDepth
all individuals: 3541
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49064
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1233
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537941004583064e-5
allele num: 65022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

QD
type: SiteQuality
SIO_000300: 1.019e1

DP
type: SiteQuality
SIO_000300: 3.548036e6

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

FS
type: SiteQuality
SIO_000300: 1.0422e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49064
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537941004583064e-5
allele num: 65022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.019e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 1.0422e1

DP
type: SiteQuality
SIO_000300: 3.548036e6

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1