17-56598323-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598323
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598323
    reference: chr 17
allele count: 87
allele frequency: 7.188775594520005e-4
allele num: 121022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+985T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1343A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*544A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2460+36A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1746A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1220+36A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.836+36A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1452A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1277+36A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.980+36A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.980+36A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1253+36A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1220+36A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1322+36A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1821+36A>G
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-56598327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598327
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598327
    reference: chr 17
allele count: 2
allele frequency: 1.652291728627607e-5
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1448G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1253+32G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1322+32G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1220+32G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+989C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2460+32G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1742G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.836+32G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1220+32G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1821+32G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*540G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1339G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1277+32G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.980+32G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.980+32G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

17-56598327-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598327
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598325
    reference: chr 17
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1821+30_1821+31delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1220+30_1220+31delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2460+30_2460+31delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.836+30_836+31delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*538_*539delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1446_1447delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1322+30_1322+31delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+990_141+991delCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1253+30_1253+31delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.980+30_980+31delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1740_1741delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1277+30_1277+31delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1337_1338delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.980+30_980+31delAG
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1220+30_1220+31delAG
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: CCT
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-56598333-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598333
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598333
    reference: chr 17
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1253+26T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*534T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.980+26T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2460+26T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1220+26T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1442T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1322+26T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1736T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1220+26T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1333T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1277+26T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+995A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.836+26T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.980+26T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1821+26T>C
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11675
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/17-56598346-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598346
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598346
    reference: chr 17
allele count: 2
allele frequency: 1.650900566258894e-5
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1723G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*521G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1008C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1322+13G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2460+13G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1253+13G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.980+13G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1821+13G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1320G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1277+13G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.980+13G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1429G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1220+13G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1220+13G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.836+13G>T
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

17-56598362-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598362
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598362
    reference: chr 17
allele count: 5
allele frequency: 4.123983438082513e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1304G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1250G>A
  hgvsp: ENSP00000414779.3:p.Arg417His
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1413G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.833G>A
  hgvsp: ENSP00000463768.1:p.Arg278His
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1024C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2457G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.977G>A
  hgvsp: ENSP00000464373.1:p.Arg326His
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1707G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1217G>A
  hgvsp: ENSP00000321071.6:p.Arg406His
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1217G>A
  hgvsp: ENSP00000376801.1:p.Arg406His
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1274G>A
  hgvsp: ENSP00000321674.3:p.Arg425His
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1319G>A
  hgvsp: ENSP00000402000.2:p.Arg440His
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1818G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.977G>A
  hgvsp: ENSP00000462727.1:p.Arg326His
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*505G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg440His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

17-56598363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598363
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598363
    reference: chr 17
allele count: 2
allele frequency: 1.649103712132456e-5
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1216C>T
  hgvsp: ENSP00000376801.1:p.Arg406Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1249C>T
  hgvsp: ENSP00000414779.3:p.Arg417Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1318C>T
  hgvsp: ENSP00000402000.2:p.Arg440Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*504C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1216C>T
  hgvsp: ENSP00000321071.6:p.Arg406Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2456C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1706C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1025G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.832C>T
  hgvsp: ENSP00000463768.1:p.Arg278Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1273C>T
  hgvsp: ENSP00000321674.3:p.Arg425Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1817C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.976C>T
  hgvsp: ENSP00000464373.1:p.Arg326Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1412C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.976C>T
  hgvsp: ENSP00000462727.1:p.Arg326Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1303C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg440Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-56598368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598368
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598368
    reference: chr 17
allele count: 4
allele frequency: 3.297881111385935e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1244G>A
  hgvsp: ENSP00000414779.3:p.Arg415Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1812G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1701G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1211G>A
  hgvsp: ENSP00000376801.1:p.Arg404Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*499G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1313G>A
  hgvsp: ENSP00000402000.2:p.Arg438Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.971G>A
  hgvsp: ENSP00000462727.1:p.Arg324Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1211G>A
  hgvsp: ENSP00000321071.6:p.Arg404Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.971G>A
  hgvsp: ENSP00000464373.1:p.Arg324Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1407G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1268G>A
  hgvsp: ENSP00000321674.3:p.Arg423Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1030C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2451G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.827G>A
  hgvsp: ENSP00000463768.1:p.Arg276Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1298G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg438Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

17-56598369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598369
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598369
    reference: chr 17
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.970C>T
  hgvsp: ENSP00000462727.1:p.Arg324Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.826C>T
  hgvsp: ENSP00000463768.1:p.Arg276Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1406C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*498C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2450C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1210C>T
  hgvsp: ENSP00000321071.6:p.Arg404Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1297C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1700C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1811C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.970C>T
  hgvsp: ENSP00000464373.1:p.Arg324Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1267C>T
  hgvsp: ENSP00000321674.3:p.Arg423Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1210C>T
  hgvsp: ENSP00000376801.1:p.Arg404Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1031G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1312C>T
  hgvsp: ENSP00000402000.2:p.Arg438Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1243C>T
  hgvsp: ENSP00000414779.3:p.Arg415Trp
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg438Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/17-56598381-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598381
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598381
    reference: chr 17
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1799G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1198G>T
  hgvsp: ENSP00000321071.6:p.Val400Leu
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2438G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1285G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.958G>T
  hgvsp: ENSP00000462727.1:p.Val320Leu
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1255G>T
  hgvsp: ENSP00000321674.3:p.Val419Leu
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1300G>T
  hgvsp: ENSP00000402000.2:p.Val434Leu
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.958G>T
  hgvsp: ENSP00000464373.1:p.Val320Leu
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.814G>T
  hgvsp: ENSP00000463768.1:p.Val272Leu
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1198G>T
  hgvsp: ENSP00000376801.1:p.Val400Leu
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1231G>T
  hgvsp: ENSP00000414779.3:p.Val411Leu
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1043C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1688G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1394G>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*486G>T
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val434Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-56598387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598387
    reference: chr 17
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1192C>T
  hgvsp: ENSP00000321071.6:p.Arg398Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.952C>T
  hgvsp: ENSP00000464373.1:p.Arg318Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1279C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.808C>T
  hgvsp: ENSP00000463768.1:p.Arg270Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1225C>T
  hgvsp: ENSP00000414779.3:p.Arg409Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1682C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.952C>T
  hgvsp: ENSP00000462727.1:p.Arg318Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2432C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1049G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1249C>T
  hgvsp: ENSP00000321674.3:p.Arg417Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1192C>T
  hgvsp: ENSP00000376801.1:p.Arg398Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1388C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*480C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1793C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1294C>T
  hgvsp: ENSP00000402000.2:p.Arg432Cys
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg432Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-56598389-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598389
    reference: chr 17
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1190C>A
  hgvsp: ENSP00000376801.1:p.Thr397Asn
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1386C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.806C>A
  hgvsp: ENSP00000463768.1:p.Thr269Asn
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1190C>A
  hgvsp: ENSP00000321071.6:p.Thr397Asn
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2430C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.950C>A
  hgvsp: ENSP00000464373.1:p.Thr317Asn
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*478C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1292C>A
  hgvsp: ENSP00000402000.2:p.Thr431Asn
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1247C>A
  hgvsp: ENSP00000321674.3:p.Thr416Asn
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1277C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1791C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.950C>A
  hgvsp: ENSP00000462727.1:p.Thr317Asn
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1680C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1223C>A
  hgvsp: ENSP00000414779.3:p.Thr408Asn
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1051G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr431Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-56598400-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598400
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598400
    reference: chr 17
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1375C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.939C>A
  hgvsp: ENST00000580844.1:c.939C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.795C>A
  hgvsp: ENST00000583114.1:c.795C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1780C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*467C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1669C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1281C>A
  hgvsp: ENST00000457347.2:c.1281C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1236C>A
  hgvsp: ENST00000317268.3:c.1236C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1266C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1179C>A
  hgvsp: ENST00000317256.6:c.1179C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1179C>A
  hgvsp: ENST00000393086.1:c.1179C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2419C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.939C>A
  hgvsp: ENST00000579371.1:c.939C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1212C>A
  hgvsp: ENST00000412945.3:c.1212C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1062G>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile427Ile
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-56598411-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598411
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598411
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*456G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2408G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.928G>A
  hgvsp: ENSP00000462727.1:p.Ala310Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1168G>A
  hgvsp: ENSP00000376801.1:p.Ala390Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1270G>A
  hgvsp: ENSP00000402000.2:p.Ala424Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1769G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1255G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1225G>A
  hgvsp: ENSP00000321674.3:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.928G>A
  hgvsp: ENSP00000464373.1:p.Ala310Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1201G>A
  hgvsp: ENSP00000414779.3:p.Ala401Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1658G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.784G>A
  hgvsp: ENSP00000463768.1:p.Ala262Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1073C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1364G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1168G>A
  hgvsp: ENSP00000321071.6:p.Ala390Thr
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala424Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-56598433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598433
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598433
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1146G>A
  hgvsp: ENST00000317256.6:c.1146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1146G>A
  hgvsp: ENST00000393086.1:c.1146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1248G>A
  hgvsp: ENST00000457347.2:c.1248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1179G>A
  hgvsp: ENST00000412945.3:c.1179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.762G>A
  hgvsp: ENST00000583114.1:c.762G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1342G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1203G>A
  hgvsp: ENST00000317268.3:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.906G>A
  hgvsp: ENST00000580844.1:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1636G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2386G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.906G>A
  hgvsp: ENST00000579371.1:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1095C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1233G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*434G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1747G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu416Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-56598435-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598435
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598435
    reference: chr 17
allele count: 4
allele frequency: 3.295544423938835e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1177G>A
  hgvsp: ENSP00000414779.3:p.Glu393Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1231G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1097C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2384G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.904G>A
  hgvsp: ENSP00000464373.1:p.Glu302Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1634G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.760G>A
  hgvsp: ENSP00000463768.1:p.Glu254Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1144G>A
  hgvsp: ENSP00000376801.1:p.Glu382Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.904G>A
  hgvsp: ENSP00000462727.1:p.Glu302Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1201G>A
  hgvsp: ENSP00000321674.3:p.Glu401Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1144G>A
  hgvsp: ENSP00000321071.6:p.Glu382Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*432G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1340G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1246G>A
  hgvsp: ENSP00000402000.2:p.Glu416Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1745G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu416Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-56598436-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598436
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598436
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1098C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2383G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1143G>C
  hgvsp: ENST00000317256.6:c.1143G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1143G>C
  hgvsp: ENST00000393086.1:c.1143G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*431G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1633G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1200G>C
  hgvsp: ENST00000317268.3:c.1200G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.759G>C
  hgvsp: ENST00000583114.1:c.759G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1339G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.903G>C
  hgvsp: ENST00000580844.1:c.903G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1176G>C
  hgvsp: ENST00000412945.3:c.1176G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.903G>C
  hgvsp: ENST00000579371.1:c.903G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1245G>C
  hgvsp: ENST00000457347.2:c.1245G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1230G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1744G>C
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg415Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-56598437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598437
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598437
    reference: chr 17
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1244G>A
  hgvsp: ENSP00000402000.2:p.Arg415Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.902G>A
  hgvsp: ENSP00000462727.1:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1229G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1175G>A
  hgvsp: ENSP00000414779.3:p.Arg392Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1338G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.902G>A
  hgvsp: ENSP00000464373.1:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1743G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1142G>A
  hgvsp: ENSP00000321071.6:p.Arg381Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1199G>A
  hgvsp: ENSP00000321674.3:p.Arg400Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1099C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2382G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1142G>A
  hgvsp: ENSP00000376801.1:p.Arg381Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1632G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.758G>A
  hgvsp: ENSP00000463768.1:p.Arg253Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*430G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg415Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-56598438-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598438
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598438
    reference: chr 17
allele count: 16
allele frequency: 1.318282936475241e-4
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1228C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.901C>T
  hgvsp: ENSP00000462727.1:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1174C>T
  hgvsp: ENSP00000414779.3:p.Arg392Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1243C>T
  hgvsp: ENSP00000402000.2:p.Arg415Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*429C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2381C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1141C>T
  hgvsp: ENSP00000321071.6:p.Arg381Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1100G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.757C>T
  hgvsp: ENSP00000463768.1:p.Arg253Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.901C>T
  hgvsp: ENSP00000464373.1:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1198C>T
  hgvsp: ENSP00000321674.3:p.Arg400Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1742C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1141C>T
  hgvsp: ENSP00000376801.1:p.Arg381Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1631C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1337C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11692
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg415Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-56598439-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598439
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598439
    reference: chr 17
allele count: 50103
allele frequency: 4.130775319064736e-1
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.900A>G
  hgvsp: ENST00000580844.1:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1197A>G
  hgvsp: ENST00000317268.3:c.1197A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*428A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1140A>G
  hgvsp: ENST00000317256.6:c.1140A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2380A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1173A>G
  hgvsp: ENST00000412945.3:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1227A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.756A>G
  hgvsp: ENST00000583114.1:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1140A>G
  hgvsp: ENST00000393086.1:c.1140A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.900A>G
  hgvsp: ENST00000579371.1:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1242A>G
  hgvsp: ENST00000457347.2:c.1242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1741A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1630A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1336A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1101T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.75e1
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 3.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.25e1
  variant carriers: 499
genotype depth: GenotypeDepth
  all individuals: 34397
  bin: 9.75e1
  variant carriers: 34083
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr414Thr
num of homozygotes: 10924
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

17-56598453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598453
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598453
    reference: chr 17
allele count: 9
allele frequency: 7.417663930372861e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1126C>T
  hgvsp: ENST00000317256.6:c.1126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1727C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.742C>T
  hgvsp: ENST00000583114.1:c.742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1159C>T
  hgvsp: ENST00000412945.3:c.1159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1228C>T
  hgvsp: ENST00000457347.2:c.1228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.886C>T
  hgvsp: ENST00000580844.1:c.886C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1115G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1213C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1183C>T
  hgvsp: ENST00000317268.3:c.1183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*414C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.886C>T
  hgvsp: ENST00000579371.1:c.886C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2366C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1126C>T
  hgvsp: ENST00000393086.1:c.1126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1322C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1616C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu410Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-56598454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598454
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598454
    reference: chr 17
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.741C>T
  hgvsp: ENST00000583114.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.885C>T
  hgvsp: ENST00000580844.1:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1227C>T
  hgvsp: ENST00000457347.2:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1321C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*413C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1182C>T
  hgvsp: ENST00000317268.3:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2365C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1212C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1125C>T
  hgvsp: ENST00000317256.6:c.1125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1615C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1125C>T
  hgvsp: ENST00000393086.1:c.1125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1158C>T
  hgvsp: ENST00000412945.3:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1726C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.885C>T
  hgvsp: ENST00000579371.1:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1116G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp409Asp
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

17-56598469-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598469
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598469
    reference: chr 17
allele count: 6
allele frequency: 4.945761482409575e-5
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1711T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.726T>C
  hgvsp: ENST00000583114.1:c.726T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1110T>C
  hgvsp: ENST00000317256.6:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*398T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1167T>C
  hgvsp: ENST00000317268.3:c.1167T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.870T>C
  hgvsp: ENST00000579371.1:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1212T>C
  hgvsp: ENST00000457347.2:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1600T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2350T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1197T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1306T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.870T>C
  hgvsp: ENST00000580844.1:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1110T>C
  hgvsp: ENST00000393086.1:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1143T>C
  hgvsp: ENST00000412945.3:c.1143T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1131A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg404Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-56598469-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598469
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598469
    reference: chr 17
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1212T>A
  hgvsp: ENST00000457347.2:c.1212T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1143T>A
  hgvsp: ENST00000412945.3:c.1143T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1711T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.870T>A
  hgvsp: ENST00000579371.1:c.870T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.726T>A
  hgvsp: ENST00000583114.1:c.726T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1131A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*398T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1167T>A
  hgvsp: ENST00000317268.3:c.1167T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1306T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1197T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1110T>A
  hgvsp: ENST00000393086.1:c.1110T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.870T>A
  hgvsp: ENST00000580844.1:c.870T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1110T>A
  hgvsp: ENST00000317256.6:c.1110T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1600T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2350T>A
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg404Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-56598471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598471
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598471
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1304C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1195C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1108C>T
  hgvsp: ENSP00000376801.1:p.Arg370Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1133G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.868C>T
  hgvsp: ENSP00000462727.1:p.Arg290Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2348C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1141C>T
  hgvsp: ENSP00000414779.3:p.Arg381Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1165C>T
  hgvsp: ENSP00000321674.3:p.Arg389Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.868C>T
  hgvsp: ENSP00000464373.1:p.Arg290Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1210C>T
  hgvsp: ENSP00000402000.2:p.Arg404Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1598C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1709C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*396C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.724C>T
  hgvsp: ENSP00000463768.1:p.Arg242Cys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1108C>T
  hgvsp: ENSP00000321071.6:p.Arg370Cys
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg404Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

17-56598502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598502
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598502
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.693C>T
  hgvsp: ENST00000583114.1:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2317C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1678C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1567C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1164G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.837C>T
  hgvsp: ENST00000580844.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1179C>T
  hgvsp: ENST00000457347.2:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*365C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1077C>T
  hgvsp: ENST00000317256.6:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1110C>T
  hgvsp: ENST00000412945.3:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1134C>T
  hgvsp: ENST00000317268.3:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.837C>T
  hgvsp: ENST00000579371.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1077C>T
  hgvsp: ENST00000393086.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1273C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1164C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys393Cys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

17-56598502-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598502
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598502
    reference: chr 17
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1164C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1164G>T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1179C>A
  hgvsp: ENSP00000402000.2:p.Cys393Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.837C>A
  hgvsp: ENSP00000462727.1:p.Cys279Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1077C>A
  hgvsp: ENSP00000321071.6:p.Cys359Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.693C>A
  hgvsp: ENSP00000463768.1:p.Cys231Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.837C>A
  hgvsp: ENSP00000464373.1:p.Cys279Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1077C>A
  hgvsp: ENSP00000376801.1:p.Cys359Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1273C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1134C>A
  hgvsp: ENSP00000321674.3:p.Cys378Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1110C>A
  hgvsp: ENSP00000414779.3:p.Cys370Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1678C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1567C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2317C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*365C>A
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys393Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

17-56598504-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598504
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598504
    reference: chr 17
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2315T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1132T>C
  hgvsp: ENSP00000321674.3:p.Cys378Arg
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1177T>C
  hgvsp: ENSP00000402000.2:p.Cys393Arg
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1162T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1075T>C
  hgvsp: ENSP00000321071.6:p.Cys359Arg
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1676T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.835T>C
  hgvsp: ENSP00000464373.1:p.Cys279Arg
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.691T>C
  hgvsp: ENSP00000463768.1:p.Cys231Arg
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1166A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.835T>C
  hgvsp: ENSP00000462727.1:p.Cys279Arg
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1075T>C
  hgvsp: ENSP00000376801.1:p.Cys359Arg
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1108T>C
  hgvsp: ENSP00000414779.3:p.Cys370Arg
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1271T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1565T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*363T>C
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys393Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

17-56598507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598507
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598507
    reference: chr 17
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*360C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1159C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1268C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1673C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1072C>T
  hgvsp: ENSP00000376801.1:p.His358Tyr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1105C>T
  hgvsp: ENSP00000414779.3:p.His369Tyr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1072C>T
  hgvsp: ENSP00000321071.6:p.His358Tyr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.688C>T
  hgvsp: ENSP00000463768.1:p.His230Tyr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2312C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1129C>T
  hgvsp: ENSP00000321674.3:p.His377Tyr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1174C>T
  hgvsp: ENSP00000402000.2:p.His392Tyr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.832C>T
  hgvsp: ENSP00000462727.1:p.His278Tyr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1169G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1562C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.832C>T
  hgvsp: ENSP00000464373.1:p.His278Tyr
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His392Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-56598512-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598512
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598512
    reference: chr 17
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1100C>A
  hgvsp: ENSP00000414779.3:p.Pro367Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.827C>A
  hgvsp: ENSP00000462727.1:p.Pro276Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1067C>A
  hgvsp: ENSP00000376801.1:p.Pro356Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1067C>A
  hgvsp: ENSP00000321071.6:p.Pro356Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1154C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1124C>A
  hgvsp: ENSP00000321674.3:p.Pro375Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1174G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1557C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.683C>A
  hgvsp: ENSP00000463768.1:p.Pro228Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1169C>A
  hgvsp: ENSP00000402000.2:p.Pro390Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.827C>A
  hgvsp: ENSP00000464373.1:p.Pro276Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1263C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2307C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1668C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*355C>A
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro390Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-56598528-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598528
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598528
    reference: chr 17
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1160-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.818-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1115-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*346-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1058-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1541T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1659-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.818-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2298-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1190A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1145-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1254-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.674-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1091-7T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1058-7T>C
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1160-7T>C
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-56598551-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598551
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598551
    reference: chr 17
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.674-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1254-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.818-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1213G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.818-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1659-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1145-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1115-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1160-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1058-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1518C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1091-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*346-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1058-30C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2298-30C>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

17-56598572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598572
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598572
    reference: chr 17
allele count: 7
allele frequency: 5.773291105832674e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.673+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2297+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1658+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1057+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1234C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*345+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1090+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.817+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1497G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1159+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.817+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1144+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1057+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1114+43G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1253+43G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

17-56598573-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598573
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598573
    reference: chr 17
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1144+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1090+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1159+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1496A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.817+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1057+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1235T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.817+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1057+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1114+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.673+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*345+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1253+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2297+42A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1658+42A>C
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-56598606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598606
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598606
    reference: chr 17
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.817+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1159+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1090+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1144+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2297+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.817+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1463C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.673+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1658+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1268G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1114+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1057+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*345+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1253+9C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1057+9C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-56598609-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598609
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598609
    reference: chr 17
allele count: 3
allele frequency: 2.474430880897394e-5
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.817+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*345+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1057+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1057+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1114+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1658+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.817+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1271C>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1159+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2297+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.673+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1144+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1253+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1090+6G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1460G>C
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1159+6G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-56598613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598613
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598613
    reference: chr 17
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.673+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1275A>G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1057+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.817+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2297+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1253+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*345+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1658+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1057+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1090+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1159+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.817+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1114+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1144+2T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1456T>C
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1159+2T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

17-56598618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598618
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598618
    reference: chr 17
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.814G>A
  hgvsp: ENSP00000464373.1:p.Glu272Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1141G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2294G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1655G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1054G>A
  hgvsp: ENSP00000321071.6:p.Glu352Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1054G>A
  hgvsp: ENSP00000376801.1:p.Glu352Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1087G>A
  hgvsp: ENSP00000414779.3:p.Glu363Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.814G>A
  hgvsp: ENSP00000462727.1:p.Glu272Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1111G>A
  hgvsp: ENSP00000321674.3:p.Glu371Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1451G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*342G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1250G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.670G>A
  hgvsp: ENSP00000463768.1:p.Glu224Lys
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1280C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1156G>A
  hgvsp: ENSP00000402000.2:p.Glu386Lys
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu386Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-56598622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598622
    reference: chr 17
allele count: 4
allele frequency: 3.299785513941594e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1284G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2290C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1050C>T
  hgvsp: ENST00000317256.6:c.1050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1152C>T
  hgvsp: ENST00000457347.2:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*338C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1107C>T
  hgvsp: ENST00000317268.3:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1050C>T
  hgvsp: ENST00000393086.1:c.1050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.810C>T
  hgvsp: ENST00000579371.1:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1083C>T
  hgvsp: ENST00000412945.3:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.810C>T
  hgvsp: ENST00000580844.1:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.666C>T
  hgvsp: ENST00000583114.1:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1651C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1447C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1137C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1246C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile384Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-56598637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598637
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598637
    reference: chr 17
allele count: 11
allele frequency: 9.075308560491056e-5
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1068C>T
  hgvsp: ENST00000412945.3:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.795C>T
  hgvsp: ENST00000579371.1:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.651C>T
  hgvsp: ENST00000583114.1:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1432C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1035C>T
  hgvsp: ENST00000393086.1:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1299G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1035C>T
  hgvsp: ENST00000317256.6:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.795C>T
  hgvsp: ENST00000580844.1:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2275C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1092C>T
  hgvsp: ENST00000317268.3:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*323C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1137C>T
  hgvsp: ENST00000457347.2:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1636C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1231C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1122C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu379Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-56598648-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598648
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598647
    reference: chr 17
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.783delT
  hgvsp: ENSP00000464373.1:p.Arg262GlyfsTer21
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1023delT
  hgvsp: ENSP00000376801.1:p.Arg342GlyfsTer21
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*311delT
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1312delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1624delT
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1125delT
  hgvsp: ENSP00000402000.2:p.Arg376GlyfsTer21
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1110delT
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1023delT
  hgvsp: ENSP00000321071.6:p.Arg342GlyfsTer21
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.783delT
  hgvsp: ENSP00000462727.1:p.Arg262GlyfsTer21
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1080delT
  hgvsp: ENSP00000321674.3:p.Arg361GlyfsTer21
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.639delT
  hgvsp: ENSP00000463768.1:p.Arg214GlyfsTer21
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2263delT
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1219delT
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1056delT
  hgvsp: ENSP00000414779.3:p.Arg353GlyfsTer21
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1420delT
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg376GlyfsTer21
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: GA
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-56598653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598653
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598653
    reference: chr 17
allele count: 2
allele frequency: 1.651036851142517e-5
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1052G>A
  hgvsp: ENSP00000414779.3:p.Arg351Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1620G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1106G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2259G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.779G>A
  hgvsp: ENSP00000462727.1:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1121G>A
  hgvsp: ENSP00000402000.2:p.Arg374Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1019G>A
  hgvsp: ENSP00000376801.1:p.Arg340Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1215G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1076G>A
  hgvsp: ENSP00000321674.3:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.779G>A
  hgvsp: ENSP00000464373.1:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.635G>A
  hgvsp: ENSP00000463768.1:p.Arg212Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1416G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1315C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*307G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1019G>A
  hgvsp: ENSP00000321071.6:p.Arg340Gln
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg374Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-56598654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598654
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598654
    reference: chr 17
allele count: 3
allele frequency: 2.476718842876956e-5
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1105C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1051C>T
  hgvsp: ENSP00000414779.3:p.Arg351Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1316G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2258C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1415C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1120C>T
  hgvsp: ENSP00000402000.2:p.Arg374Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1214C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1018C>T
  hgvsp: ENSP00000321071.6:p.Arg340Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1075C>T
  hgvsp: ENSP00000321674.3:p.Arg359Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.778C>T
  hgvsp: ENSP00000462727.1:p.Arg260Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*306C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1018C>T
  hgvsp: ENSP00000376801.1:p.Arg340Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.634C>T
  hgvsp: ENSP00000463768.1:p.Arg212Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.778C>T
  hgvsp: ENSP00000464373.1:p.Arg260Ter
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1619C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg374Ter
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-56598655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598655
    reference: chr 17
allele count: 6389
allele frequency: 5.274411385926097e-2
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.777G>A
  hgvsp: ENST00000579371.1:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1119G>A
  hgvsp: ENST00000457347.2:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.777G>A
  hgvsp: ENST00000580844.1:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1050G>A
  hgvsp: ENST00000412945.3:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1017G>A
  hgvsp: ENST00000393086.1:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1104G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1213G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.633G>A
  hgvsp: ENST00000583114.1:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*305G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1074G>A
  hgvsp: ENST00000317268.3:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1618G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1017G>A
  hgvsp: ENST00000317256.6:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1414G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2257G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1317C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 418
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 9.75e1
  variant carriers: 2482
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 3.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 4.25e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 18468
  bin: 2.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 4.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
hgvs: p.Arg373Arg
num of homozygotes: 252
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-56598656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598656
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598656
    reference: chr 17
allele count: 69
allele frequency: 5.697111812011824e-4
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1212G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1049G>A
  hgvsp: ENSP00000414779.3:p.Arg350Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1016G>A
  hgvsp: ENSP00000321071.6:p.Arg339Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1103G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1413G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.632G>A
  hgvsp: ENSP00000463768.1:p.Arg211Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.776G>A
  hgvsp: ENSP00000462727.1:p.Arg259Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2256G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1073G>A
  hgvsp: ENSP00000321674.3:p.Arg358Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1016G>A
  hgvsp: ENSP00000376801.1:p.Arg339Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1617G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.776G>A
  hgvsp: ENSP00000464373.1:p.Arg259Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*304G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1118G>A
  hgvsp: ENSP00000402000.2:p.Arg373Gln
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1318C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15604
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Arg373Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

17-56598657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598657
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598657
    reference: chr 17
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1117C>T
  hgvsp: ENSP00000402000.2:p.Arg373Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.775C>T
  hgvsp: ENSP00000464373.1:p.Arg259Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.775C>T
  hgvsp: ENSP00000462727.1:p.Arg259Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1072C>T
  hgvsp: ENSP00000321674.3:p.Arg358Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.1015C>T
  hgvsp: ENSP00000321071.6:p.Arg339Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1616C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2255C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.1015C>T
  hgvsp: ENSP00000376801.1:p.Arg339Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1412C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1048C>T
  hgvsp: ENSP00000414779.3:p.Arg350Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1102C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.631C>T
  hgvsp: ENSP00000463768.1:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1319G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*303C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1211C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg373Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-56598678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598678
    reference: chr 17
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1081A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1595A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1051A>G
  hgvsp: ENSP00000321674.3:p.Thr351Ala
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2234A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.754A>G
  hgvsp: ENSP00000462727.1:p.Thr252Ala
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.994A>G
  hgvsp: ENSP00000376801.1:p.Thr332Ala
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1027A>G
  hgvsp: ENSP00000414779.3:p.Thr343Ala
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1391A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1340T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.994A>G
  hgvsp: ENSP00000321071.6:p.Thr332Ala
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.610A>G
  hgvsp: ENSP00000463768.1:p.Thr204Ala
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1190A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1096A>G
  hgvsp: ENSP00000402000.2:p.Thr366Ala
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*282A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.754A>G
  hgvsp: ENSP00000464373.1:p.Thr252Ala
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr366Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

17-56598689-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598689
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598689
    reference: chr 17
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.1016T>C
  hgvsp: ENSP00000414779.3:p.Ile339Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.743T>C
  hgvsp: ENSP00000464373.1:p.Ile248Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*271T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1351A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.983T>C
  hgvsp: ENSP00000321071.6:p.Ile328Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1070T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1040T>C
  hgvsp: ENSP00000321674.3:p.Ile347Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2223T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1085T>C
  hgvsp: ENSP00000402000.2:p.Ile362Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1179T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.983T>C
  hgvsp: ENSP00000376801.1:p.Ile328Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.743T>C
  hgvsp: ENSP00000462727.1:p.Ile248Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.599T>C
  hgvsp: ENSP00000463768.1:p.Ile200Thr
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1584T>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1380T>C
  variant of: http://identifiers.org/hgnc/9165
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile362Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-56598721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598721
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598721
    reference: chr 17
allele count: 7
allele frequency: 5.808261006654608e-5
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.721-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1383G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.961-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1562-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1063-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.721-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.994-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1348C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1048-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.577-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.961-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*249-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1157-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1018-10C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2201-10C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-56598723-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598723
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598723
    reference: chr 17
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1063-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.577-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1048-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1346A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*249-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.721-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2201-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1385T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.961-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1018-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1562-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.721-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1157-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.994-12A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.961-12A>C
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

17-56598728-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598728
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598728
    reference: chr 17
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2201-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.961-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1157-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.721-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.577-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1063-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1018-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.961-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1048-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1341C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*249-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1390G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1562-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.721-17C>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.994-17C>G
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-56598729-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598729
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598729
    reference: chr 17
allele count: 2
allele frequency: 1.666750004166875e-5
allele num: 119994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.994-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1391T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.721-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1562-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1340A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2201-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*249-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1157-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.961-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.721-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.577-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.961-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1063-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1018-18A>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1048-18A>C
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-56598741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598741
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598741
    reference: chr 17
allele count: 1
allele frequency: 8.34125752798492e-6
allele num: 119886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1403C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.994-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.961-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.577-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1328G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.961-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.721-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1157-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1018-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*249-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1562-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1048-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2201-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.721-30G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1063-30G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

17-56598742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598742
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598742
    reference: chr 17
allele count: 4
allele frequency: 3.33850802076552e-5
allele num: 119814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.961-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1327G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1018-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1562-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1157-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1404C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.721-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.961-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*249-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.721-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1063-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.994-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1048-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2201-31G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.577-31G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-56598750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598750
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598750
    reference: chr 17
allele count: 21
allele frequency: 1.757351587474267e-4
allele num: 119498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*249-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1412C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.961-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.721-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1319G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.577-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1018-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.721-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1157-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.994-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2201-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1562-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1048-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.961-39G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1063-39G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 2.75e1
  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: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-56598857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598857
    reference: chr 17
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1047+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.993+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.720+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1156+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1062+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1212G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.576+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.720+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*248+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1519C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1561+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.960+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2200+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.960+49G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1017+49G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.25e1
  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: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

17-56598858-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598858
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598858
    reference: chr 17
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.993+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1017+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.576+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1520T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1156+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.960+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2200+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1062+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.960+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1211A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.720+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1047+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.720+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*248+48A>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1561+48A>T
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

17-56598860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598860
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598860
    reference: chr 17
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1209G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.960+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.720+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.576+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.720+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1047+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1522C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*248+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1062+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1156+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.993+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1561+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1017+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2200+46G>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.960+46G>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

17-56598861-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598861
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598861
    reference: chr 17
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.720+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.993+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1208G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1523C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.576+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1062+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1156+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.960+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1561+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.720+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1017+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*248+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2200+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1047+45G>C
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.960+45G>C
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-56598863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598863
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598863
    reference: chr 17
allele count: 12
allele frequency: 9.902624195411784e-5
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1561+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1156+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.720+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*248+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1206C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1062+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.960+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.993+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.960+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.576+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1047+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2200+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1525G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1017+43C>T
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.720+43C>T
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-56598864-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598864
    reference: chr 17
allele count: 3
allele frequency: 2.47496163809461e-5
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1526G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*248+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.720+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1047+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1017+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.993+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1156+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.960+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.720+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.960+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1205C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1561+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2200+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1062+42C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.576+42C>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-56598865-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598865
    reference: chr 17
allele count: 3
allele frequency: 2.474757473767571e-5
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2200+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.720+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1062+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.960+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.960+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.993+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1527A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.720+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1047+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1017+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*248+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1561+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1204T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1156+41T>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.576+41T>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-56598867-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598867
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598867
    reference: chr 17
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1561+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1529G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.960+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.993+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1202C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.576+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.960+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*248+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.720+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1047+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1017+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1062+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1156+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.720+39C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2200+39C>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

17-56598876-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598876
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598876
    reference: chr 17
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000376801
  ensembl transcript: ENST00000393086
  gene symbol: SEPT4
  hgvsc: ENST00000393086.1:c.960+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000463768
  ensembl transcript: ENST00000583114
  gene symbol: SEPT4
  hgvsc: ENST00000583114.1:c.576+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000462727
  ensembl transcript: ENST00000580844
  gene symbol: SEPT4
  hgvsc: ENST00000580844.1:c.720+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402000
  ensembl transcript: ENST00000457347
  gene symbol: SEPT4
  hgvsc: ENST00000457347.2:c.1062+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264672
  ensembl transcript: ENST00000580589
  gene symbol: RP11-112H10.4
  hgvsc: ENST00000580589.1:n.141+1538T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000584488
  gene symbol: SEPT4
  hgvsc: ENST00000584488.1:n.1156+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000464373
  ensembl transcript: ENST00000579371
  gene symbol: SEPT4
  hgvsc: ENST00000579371.1:c.720+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321071
  ensembl transcript: ENST00000317256
  gene symbol: SEPT4
  hgvsc: ENST00000317256.6:c.960+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000414779
  ensembl transcript: ENST00000412945
  gene symbol: SEPT4
  hgvsc: ENST00000412945.3:c.993+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000583273
  gene symbol: SEPT4
  hgvsc: ENST00000583273.1:n.1561+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1193A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000402348
  ensembl transcript: ENST00000426861
  gene symbol: SEPT4
  hgvsc: ENST00000426861.1:c.*248+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl protein: ENSP00000321674
  ensembl transcript: ENST00000317268
  gene symbol: SEPT4
  hgvsc: ENST00000317268.3:c.1017+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000580796
  gene symbol: SEPT4
  hgvsc: ENST00000580796.1:n.2200+30A>G
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1047+30A>G
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

17-56598878-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598878
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56598878
    reference: chr 17
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000582270
  gene symbol: SEPT4
  hgvsc: ENST00000582270.1:n.1191C>A
  variant of: http://identifiers.org/hgnc/9165
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108387
  ensembl transcript: ENST00000577440
  gene symbol: SEPT4
  hgvsc: ENST00000577440.1:n.1047+28C>A
  variant of: http://identifiers.org/hgnc/9165
canonical: false
consequence: non coding transcript exon
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 7261
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2601
bin: 6.25e1
variant carriers: 5

GenotypeDepth
all individuals: 3413
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 11699
bin: 9.75e1
variant carriers: 40

GenotypeDepth
all individuals: 1635
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3210
bin: 8.75e1
variant carriers: 10

GenotypeDepth
all individuals: 2683
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 929
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40514
bin: 9.75e1
variant carriers: 87

GenotypeQuality
all individuals: 415
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 84
allele frequency: 8.075370121130552e-3
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002371873780286e-5
allele num: 66614
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQ
type: SiteQuality
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.002732486562772e-5
allele num: 66606
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Finnish)
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South Asian
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Latino
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East Asian
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allele frequency: 1.15606936416185e-4
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African
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Other
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MQ
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SIO_000300: 6.023e1

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

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

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

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

East Asian
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South Asian
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Other
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allele num: 904
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Latino
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DP
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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MQ
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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DP
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

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

South Asian
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allele frequency: 2.429543245869776e-4
allele num: 16464
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 1.91e-1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

East Asian
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ReadPosRankSum
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SIO_000300: 1.05e0

VQSLOD
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MQ
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SIO_000300: 5.98e1

InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele count: 1
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allele num: 11578
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66700
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Other
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South Asian
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Other
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FS
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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MQ
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DP
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InbreedingCoeff
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FS
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VQSLOD
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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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MQRankSum
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DP
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InbreedingCoeff
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MQ
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FS
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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ReadPosRankSum
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MQ
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DP
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FS
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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South Asian
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QD
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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African
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European (Finnish)
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South Asian
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Latino
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East Asian
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MQ
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DP
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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East Asian
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African
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South Asian
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MQRankSum
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FS
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DP
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 7372
bin: 6.25e1
variant carriers: 12

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

GenotypeQuality
all individuals: 44661
bin: 9.75e1
variant carriers: 39076

GenotypeQuality
all individuals: 1610
bin: 7.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1271
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1276
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 2299
allele frequency: 3.477011494252873e-1
allele num: 6612
num of homozygotes: 373

Other
type: Population
allele count: 351
allele frequency: 3.865638766519824e-1
allele num: 908
num of homozygotes: 69

European (Non-Finnish)
type: Population
allele count: 25581
allele frequency: 3.83488741642431e-1
allele num: 66706
num of homozygotes: 4885

South Asian
type: Population
allele count: 6652
allele frequency: 4.029561424763751e-1
allele num: 16508
num of homozygotes: 1386

Latino
type: Population
allele count: 7606
allele frequency: 6.578446635530185e-1
allele num: 11562
num of homozygotes: 2566

East Asian
type: Population
allele count: 4489
allele frequency: 5.211283956350128e-1
allele num: 8614
num of homozygotes: 1170

African
type: Population
allele count: 3125
allele frequency: 3.010017337699865e-1
allele num: 10382
num of homozygotes: 475

QD
type: SiteQuality
SIO_000300: 1.909e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.197e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.63e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.500884e6

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

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

GenotypeDepth
all individuals: 1205
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4150
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 531
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
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variant carriers: 0

GenotypeQuality
all individuals: 14399
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variant carriers: 9

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
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variant carriers: 0

GenotypeQuality
all individuals: 4725
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variant carriers: 0

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

GenotypeQuality
all individuals: 8633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 9.25e1
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: 9
allele frequency: 1.349203969657902e-4
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
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: 8648
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 2.204304e6

FS
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

QD
type: SiteQuality
SIO_000300: 1.47e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

GenotypeDepth
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4151
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 960
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variant carriers: 0

GenotypeDepth
all individuals: 260
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variant carriers: 0

GenotypeDepth
all individuals: 7266
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variant carriers: 0

GenotypeDepth
all individuals: 1616
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variant carriers: 0

GenotypeDepth
all individuals: 2952
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variant carriers: 1

GenotypeDepth
all individuals: 4351
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 1866
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variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 20969
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14391
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4727
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

DP
type: SiteQuality
SIO_000300: 2.203547e6

QD
type: SiteQuality
SIO_000300: 1.673e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.423e0

FS
type: SiteQuality
SIO_000300: 1.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4351
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 220
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variant carriers: 0

GenotypeDepth
all individuals: 1618
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 526
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variant carriers: 4

GenotypeDepth
all individuals: 1202
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14711
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

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

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 8617
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 3700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2534
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1867
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variant carriers: 0

GenotypeQuality
all individuals: 20929
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14388
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3570
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
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: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.202389e6

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeDepth
all individuals: 1202
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4351
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1618
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 657
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variant carriers: 0

GenotypeDepth
all individuals: 460
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variant carriers: 0

GenotypeDepth
all individuals: 2145
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variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 960
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 2534
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variant carriers: 0

GenotypeQuality
all individuals: 114
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GenotypeQuality
all individuals: 14388
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variant carriers: 1

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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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 4720
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 20929
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

DP
type: SiteQuality
SIO_000300: 2.202389e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeDepth
all individuals: 7264
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 961
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14710
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 220
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variant carriers: 0

GenotypeDepth
all individuals: 1617
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variant carriers: 0

GenotypeDepth
all individuals: 133
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variant carriers: 0

GenotypeDepth
all individuals: 2145
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
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GenotypeQuality
all individuals: 14381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 3.75e1
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GenotypeQuality
all individuals: 3700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 4720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
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GenotypeQuality
all individuals: 20954
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3569
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GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
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: 8646
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 2.201965e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 1.885e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeDepth
all individuals: 1616
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 459
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GenotypeDepth
all individuals: 2948
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GenotypeDepth
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GenotypeDepth
all individuals: 522
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 14369
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 2535
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GenotypeQuality
all individuals: 3557
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variant carriers: 0

GenotypeQuality
all individuals: 134
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GenotypeQuality
all individuals: 4715
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GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1866
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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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African
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Other
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European (Non-Finnish)
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num of homozygotes: 0

South Asian
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Latino
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East Asian
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.95e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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FS
type: SiteQuality
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MQ
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SIO_000300: 5.963e1

MQRankSum
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SIO_000300: 4.86e-1

VQSLOD
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SIO_000300: -2.215e0

QD
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SIO_000300: 2.423e1

ReadPosRankSum
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DP
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SIO_000300: 2.194788e6

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 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: 11562
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.501530520376928e-5
allele num: 66644
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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SIO_000300: -5.4e-1

MQ
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SIO_000300: 5.977e1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.049606775559589e-4
allele num: 6612
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.05048322228225e-4
allele num: 66636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.111e0

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.576e0

DP
type: SiteQuality
SIO_000300: 2.194408e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.303000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeDepth
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variant carriers: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003453972067878e-5
allele num: 66590
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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FS
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -3.02e-1

MQ
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.50558692779046e-5
allele num: 66584
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 391

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3530
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 158
allele frequency: 1.366782006920415e-2
allele num: 11560
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 538
allele frequency: 8.139183055975795e-2
allele num: 6610
num of homozygotes: 25

African
type: Population
allele count: 114
allele frequency: 1.103581800580833e-2
allele num: 10330
num of homozygotes: 3

South Asian
type: Population
allele count: 1016
allele frequency: 6.159815690554141e-2
allele num: 16494
num of homozygotes: 35

European (Non-Finnish)
type: Population
allele count: 4518
allele frequency: 6.784802522901337e-2
allele num: 66590
num of homozygotes: 185

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 43
allele frequency: 4.767184035476718e-2
allele num: 902
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.209e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.247e0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.59e0

DP
type: SiteQuality
SIO_000300: 2.396224e6

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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GenotypeDepth
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variant carriers: 19

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 69

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.595155709342561e-4
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.843084075939558e-4
allele num: 10324
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 58
allele frequency: 8.71184811343427e-4
allele num: 66576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

MQ
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SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

DP
type: SiteQuality
SIO_000300: 2.037158e6

FS
type: SiteQuality
SIO_000300: 1.105e0

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10496
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variant carriers: 1

GenotypeQuality
all individuals: 9221
bin: 6.75e1
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: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.57e-1

QD
type: SiteQuality
SIO_000300: 6.29e0

FS
type: SiteQuality
SIO_000300: 1.871e0

DP
type: SiteQuality
SIO_000300: 2.033788e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.347e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.635e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16
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GenotypeQuality
all individuals: 1942
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
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: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

FS
type: SiteQuality
SIO_000300: 4.486e0

QD
type: SiteQuality
SIO_000300: 4.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

VQSLOD
type: SiteQuality
SIO_000300: -2.451e0

DP
type: SiteQuality
SIO_000300: 2.031515e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 7596
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66466
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
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.98e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.430133657351154e-4
allele num: 16460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.52980612429788e-5
allele num: 66228
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511304558094547e-5
allele num: 66168
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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East Asian
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Other
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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SIO_000300: 5.911e1

FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 2.69e-1

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51285930408472e-5
allele num: 66100
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
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allele frequency: 0.0e0
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South Asian
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QD
type: SiteQuality
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518187890933382e-5
allele num: 65868
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
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African
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allele num: 10180
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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FS
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.899e1

BaseQRankSum
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SIO_000300: -3.42e0

ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.179523472517103e-4
allele num: 8478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -8.0e-3

ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
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QD
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DP
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ClippingRankSum
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SIO_000300: -9.31e-1

MQ
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SIO_000300: 5.982e1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5194797301404e-5
allele num: 65812
num of homozygotes: 0

South Asian
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African
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East Asian
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Latino
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allele num: 11460
num of homozygotes: 0

Other
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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MQ
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DP
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65646
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Latino
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East Asian
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South Asian
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African
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Other
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66638
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
allele num: 906
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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MQ
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -5.351e-1

BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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SIO_000300: 1.131e1

MQ
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SIO_000300: 5.953e1

InbreedingCoeff
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SIO_000300: 3.1e-3

DP
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GenotypeDepth
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.704e0

QD
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.223e0

MQRankSum
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SIO_000300: 6.33e-1

DP
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SIO_000300: 2.65386e6

FS
type: SiteQuality
SIO_000300: 8.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.901915264074289e-4
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.005223029357028e-5
allele num: 66628
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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SIO_000300: 7.66e-1

MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -5.24e-1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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num of homozygotes: 0

South Asian
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allele frequency: 1.817741153659719e-4
allele num: 16504
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Latino
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Other
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African
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European (Non-Finnish)
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allele count: 0
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

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

South Asian
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allele frequency: 1.818181818181818e-4
allele num: 16500
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

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

Other
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African
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European (Non-Finnish)
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.658528e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.072e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeDepth
all individuals: 8659
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 507
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3996
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1499
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1146
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7324
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2263
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34360
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 9.25e1
variant carriers: 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: 906
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
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: 10364
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 2.697e0

DP
type: SiteQuality
SIO_000300: 2.661581e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.519e1