2-110321892-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321892
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321892
    reference: chr 2
allele count: 1
allele frequency: 8.8261253309797e-6
allele num: 113300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.527+51G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.629+51G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.356G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.959+51G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1028+51G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.983+51G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1028+51G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.323+51G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1028+51G>A
  variant of: http://identifiers.org/hgnc/14349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-110321894-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321894
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321894
    reference: chr 2
allele count: 1
allele frequency: 8.808710052499912e-6
allele num: 113524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.323+49T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.527+49T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.354T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.959+49T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1028+49T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1028+49T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.983+49T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1028+49T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.629+49T>C
  variant of: http://identifiers.org/hgnc/14349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-110321896-CCTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321896
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321892
    reference: chr 2
allele count: 1
allele frequency: 8.810572687224669e-6
allele num: 113500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.348_351delAGAG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1028+43_1028+46delAGAG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1028+43_1028+46delAGAG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.983+43_983+46delAGAG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.527+43_527+46delAGAG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.629+43_629+46delAGAG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.959+43_959+46delAGAG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1028+43_1028+46delAGAG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.323+43_323+46delAGAG
  variant of: http://identifiers.org/hgnc/14349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7898
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: CCTCT
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-110321904-ACTTCCTCTTTGGTTGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321904
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321888
    reference: chr 2
allele count: 1
allele frequency: 8.779631255487269e-6
allele num: 113900
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  variant of: http://identifiers.org/hgnc/14349
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: ACTTCCTCTTTGGTTGG
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-110321909-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321909
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321909
    reference: chr 2
allele count: 1
allele frequency: 8.764549151591641e-6
allele num: 114096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.339G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.323+34G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.959+34G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1028+34G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.983+34G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1028+34G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.629+34G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.527+34G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1028+34G>T
  variant of: http://identifiers.org/hgnc/14349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

2-110321921-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321921
    reference: chr 2
allele count: 1
allele frequency: 8.697164724299877e-6
allele num: 114980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.629+22G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1028+22G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.327G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1028+22G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.983+22G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1028+22G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.527+22G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.323+22G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.959+22G>C
  variant of: http://identifiers.org/hgnc/14349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28585
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-110321932-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321932
    reference: chr 2
allele count: 1
allele frequency: 8.587524045067326e-6
allele num: 116448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.629+11G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1028+11G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1028+11G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.983+11G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.316G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.323+11G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.959+11G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.527+11G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1028+11G>T
  variant of: http://identifiers.org/hgnc/14349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-110321935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321935
    reference: chr 2
allele count: 432
allele frequency: 3.695592663564194e-3
allele num: 116896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.527+8G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.959+8G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1028+8G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1028+8G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.983+8G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.323+8G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.313G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.629+8G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1028+8G>A
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8916
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 18419
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 12385
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1028+8G>A
num of homozygotes: 3
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

2-110321938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321938
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321938
    reference: chr 2
allele count: 20
allele frequency: 1.705786026200873e-4
allele num: 117248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.527+5G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.629+5G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.959+5G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.323+5G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1028+5G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.983+5G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1028+5G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.310G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1028+5G>A
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18621
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1028+5G>A
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-110321939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321939
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321939
    reference: chr 2
allele count: 1
allele frequency: 8.521226374899876e-6
allele num: 117354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1028+4G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1028+4G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.983+4G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.323+4G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.527+4G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.959+4G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.629+4G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1028+4G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.309G>A
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1028+4G>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-110321949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321949
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321949
    reference: chr 2
allele count: 2
allele frequency: 1.687877662627013e-5
allele num: 118492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1022C>T
  hgvsp: ENSP00000396728.1:p.Pro341Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1022C>T
  hgvsp: ENSP00000380824.2:p.Pro341Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.299C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.977C>T
  hgvsp: ENSP00000407790.1:p.Pro326Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.623C>T
  hgvsp: ENSP00000334234.6:p.Pro208Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.953C>T
  hgvsp: ENSP00000380826.2:p.Pro318Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.521C>T
  hgvsp: ENSP00000439364.1:p.Pro174Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1022C>T
  hgvsp: ENSP00000349116.4:p.Pro341Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*591C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.317C>T
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7709
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro341Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

2-110321951-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321951
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321952
    reference: chr 2
allele count: 1
allele frequency: 8.430281571404485e-6
allele num: 118620
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.620dupA
  hgvsp: ENSP00000334234.6:p.Pro208AlafsTer9
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*588dupA
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.950dupA
  hgvsp: ENSP00000380826.2:p.Pro318AlafsTer9
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.314dupA
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1019dupA
  hgvsp: ENSP00000396728.1:p.Pro341AlafsTer9
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1019dupA
  hgvsp: ENSP00000380824.2:p.Pro341AlafsTer9
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.974dupA
  hgvsp: ENSP00000407790.1:p.Pro326AlafsTer9
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1019dupA
  hgvsp: ENSP00000349116.4:p.Pro341AlafsTer9
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.518dupA
  hgvsp: ENSP00000439364.1:p.Pro174AlafsTer9
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.296dupA
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro341AlafsTer9
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

2-110321954-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321954
    reference: chr 2
allele count: 2777
allele frequency: 2.381034039269485e-2
allele num: 116630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.312C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1017C>A
  hgvsp: ENSP00000380824.2:p.Asn339Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*586C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.516C>A
  hgvsp: ENSP00000439364.1:p.Asn172Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.618C>A
  hgvsp: ENSP00000334234.6:p.Asn206Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.294C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.972C>A
  hgvsp: ENSP00000407790.1:p.Asn324Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1017C>A
  hgvsp: ENSP00000396728.1:p.Asn339Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1017C>A
  hgvsp: ENSP00000349116.4:p.Asn339Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.948C>A
  hgvsp: ENSP00000380826.2:p.Asn316Lys
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 9.75e1
  variant carriers: 1603
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 3.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 12415
  bin: 3.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 18748
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 4.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.25e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 46
hgvs: p.Asn339Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-110321959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321959
    reference: chr 2
allele count: 352
allele frequency: 2.974530581892545e-3
allele num: 118338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.511G>A
  hgvsp: ENSP00000439364.1:p.Glu171Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1012G>A
  hgvsp: ENSP00000380824.2:p.Glu338Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.307G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.943G>A
  hgvsp: ENSP00000380826.2:p.Glu315Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1012G>A
  hgvsp: ENSP00000349116.4:p.Glu338Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.613G>A
  hgvsp: ENSP00000334234.6:p.Glu205Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.289G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.967G>A
  hgvsp: ENSP00000407790.1:p.Glu323Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1012G>A
  hgvsp: ENSP00000396728.1:p.Glu338Lys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*581G>A
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19775
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7887
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Glu338Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-110321960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321960
    reference: chr 2
allele count: 56
allele frequency: 4.692239371239925e-4
allele num: 119346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.306A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.510A>G
  hgvsp: ENST00000545389.1:c.510A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*580A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1011A>G
  hgvsp: ENST00000356688.4:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.288A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1011A>G
  hgvsp: ENST00000415095.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.612A>G
  hgvsp: ENST00000334001.6:c.612A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1011A>G
  hgvsp: ENST00000397712.2:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.942A>G
  hgvsp: ENST00000397714.2:c.942A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.966A>G
  hgvsp: ENST00000437928.1:c.966A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro337Pro
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-110321961-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321961
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321961
    reference: chr 2
allele count: 5
allele frequency: 4.188657116528441e-5
allele num: 119370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1010C>A
  hgvsp: ENSP00000380824.2:p.Pro337Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*579C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.941C>A
  hgvsp: ENSP00000380826.2:p.Pro314Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1010C>A
  hgvsp: ENSP00000349116.4:p.Pro337Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.305C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.287C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1010C>A
  hgvsp: ENSP00000396728.1:p.Pro337Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.965C>A
  hgvsp: ENSP00000407790.1:p.Pro322Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.509C>A
  hgvsp: ENSP00000439364.1:p.Pro170Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.611C>A
  hgvsp: ENSP00000334234.6:p.Pro204Gln
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32488
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Pro337Gln
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-110321964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321964
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321964
    reference: chr 2
allele count: 1
allele frequency: 8.36638053645232e-6
allele num: 119526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.506G>A
  hgvsp: ENSP00000439364.1:p.Gly169Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1007G>A
  hgvsp: ENSP00000349116.4:p.Gly336Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.938G>A
  hgvsp: ENSP00000380826.2:p.Gly313Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.302G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1007G>A
  hgvsp: ENSP00000396728.1:p.Gly336Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.284G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.608G>A
  hgvsp: ENSP00000334234.6:p.Gly203Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1007G>A
  hgvsp: ENSP00000380824.2:p.Gly336Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*576G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.962G>A
  hgvsp: ENSP00000407790.1:p.Gly321Asp
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly336Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-110321965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321965
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321965
    reference: chr 2
allele count: 2
allele frequency: 1.670620468441979e-5
allele num: 119716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.937G>A
  hgvsp: ENSP00000380826.2:p.Gly313Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.283G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1006G>A
  hgvsp: ENSP00000396728.1:p.Gly336Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.961G>A
  hgvsp: ENSP00000407790.1:p.Gly321Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.505G>A
  hgvsp: ENSP00000439364.1:p.Gly169Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.607G>A
  hgvsp: ENSP00000334234.6:p.Gly203Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1006G>A
  hgvsp: ENSP00000349116.4:p.Gly336Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*575G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1006G>A
  hgvsp: ENSP00000380824.2:p.Gly336Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.301G>A
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly336Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-110321967-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321967
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321967
    reference: chr 2
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.935T>G
  hgvsp: ENSP00000380826.2:p.Val312Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.299T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*573T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1004T>G
  hgvsp: ENSP00000396728.1:p.Val335Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.605T>G
  hgvsp: ENSP00000334234.6:p.Val202Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.281T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.959T>G
  hgvsp: ENSP00000407790.1:p.Val320Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.503T>G
  hgvsp: ENSP00000439364.1:p.Val168Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1004T>G
  hgvsp: ENSP00000349116.4:p.Val335Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1004T>G
  hgvsp: ENSP00000380824.2:p.Val335Gly
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8202
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val335Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-110321968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321968
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321968
    reference: chr 2
allele count: 1
allele frequency: 8.337641114575865e-6
allele num: 119938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.1003G>A
  hgvsp: ENSP00000349116.4:p.Val335Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.1003G>A
  hgvsp: ENSP00000380824.2:p.Val335Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.280G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*572G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.604G>A
  hgvsp: ENSP00000334234.6:p.Val202Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.1003G>A
  hgvsp: ENSP00000396728.1:p.Val335Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.934G>A
  hgvsp: ENSP00000380826.2:p.Val312Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.958G>A
  hgvsp: ENSP00000407790.1:p.Val320Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.502G>A
  hgvsp: ENSP00000439364.1:p.Val168Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.298G>A
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val335Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

2-110321979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321979
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321979
    reference: chr 2
allele count: 5
allele frequency: 4.155032575455391e-5
allele num: 120336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.287G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*561G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.269G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.992G>A
  hgvsp: ENSP00000380824.2:p.Gly331Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.593G>A
  hgvsp: ENSP00000334234.6:p.Gly198Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.992G>A
  hgvsp: ENSP00000396728.1:p.Gly331Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.491G>A
  hgvsp: ENSP00000439364.1:p.Gly164Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.992G>A
  hgvsp: ENSP00000349116.4:p.Gly331Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.923G>A
  hgvsp: ENSP00000380826.2:p.Gly308Asp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.947G>A
  hgvsp: ENSP00000407790.1:p.Gly316Asp
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly331Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

2-110321988-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321988
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321987
    reference: chr 2
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.913delG
  hgvsp: ENSP00000380826.2:p.Glu305ArgfsTer39
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.583delG
  hgvsp: ENSP00000334234.6:p.Glu195ArgfsTer39
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.277delG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.481delG
  hgvsp: ENSP00000439364.1:p.Glu161ArgfsTer39
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.982delG
  hgvsp: ENSP00000396728.1:p.Glu328ArgfsTer39
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.937delG
  hgvsp: ENSP00000407790.1:p.Glu313ArgfsTer39
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.259delG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.982delG
  hgvsp: ENSP00000349116.4:p.Glu328ArgfsTer39
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*551delG
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.982delG
  hgvsp: ENSP00000380824.2:p.Glu328ArgfsTer39
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu328ArgfsTer39
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: TC
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-110321998-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110321998
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110321998
    reference: chr 2
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.928T>A
  hgvsp: ENSP00000407790.1:p.Cys310Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.472T>A
  hgvsp: ENSP00000439364.1:p.Cys158Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*542T>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.268T>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.973T>A
  hgvsp: ENSP00000349116.4:p.Cys325Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.574T>A
  hgvsp: ENSP00000334234.6:p.Cys192Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.250T>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.904T>A
  hgvsp: ENSP00000380826.2:p.Cys302Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.973T>A
  hgvsp: ENSP00000396728.1:p.Cys325Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.973T>A
  hgvsp: ENSP00000380824.2:p.Cys325Ser
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13366
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys325Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-110322000-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322000
    reference: chr 2
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*540G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.572G>T
  hgvsp: ENSP00000334234.6:p.Arg191Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.971G>T
  hgvsp: ENSP00000349116.4:p.Arg324Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.266G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.971G>T
  hgvsp: ENSP00000380824.2:p.Arg324Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.926G>T
  hgvsp: ENSP00000407790.1:p.Arg309Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.470G>T
  hgvsp: ENSP00000439364.1:p.Arg157Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.902G>T
  hgvsp: ENSP00000380826.2:p.Arg301Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.248G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.971G>T
  hgvsp: ENSP00000396728.1:p.Arg324Leu
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg324Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-110322000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322000
    reference: chr 2
allele count: 39
allele frequency: 3.232383509871202e-4
allele num: 120654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.902G>A
  hgvsp: ENSP00000380826.2:p.Arg301His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.572G>A
  hgvsp: ENSP00000334234.6:p.Arg191His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*540G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.971G>A
  hgvsp: ENSP00000349116.4:p.Arg324His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.971G>A
  hgvsp: ENSP00000380824.2:p.Arg324His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.971G>A
  hgvsp: ENSP00000396728.1:p.Arg324His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.470G>A
  hgvsp: ENSP00000439364.1:p.Arg157His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.926G>A
  hgvsp: ENSP00000407790.1:p.Arg309His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.266G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.248G>A
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg324His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

2-110322001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322001
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322001
    reference: chr 2
allele count: 3
allele frequency: 2.48616037391852e-5
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.265C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.571C>T
  hgvsp: ENSP00000334234.6:p.Arg191Cys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.970C>T
  hgvsp: ENSP00000349116.4:p.Arg324Cys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.970C>T
  hgvsp: ENSP00000380824.2:p.Arg324Cys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.925C>T
  hgvsp: ENSP00000407790.1:p.Arg309Cys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.469C>T
  hgvsp: ENSP00000439364.1:p.Arg157Cys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.970C>T
  hgvsp: ENSP00000396728.1:p.Arg324Cys
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*539C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.247C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.901C>T
  hgvsp: ENSP00000380826.2:p.Arg301Cys
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg324Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-110322018-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322018
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322018
    reference: chr 2
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.908A>G
  hgvsp: ENSP00000407790.1:p.His303Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.884A>G
  hgvsp: ENSP00000380826.2:p.His295Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.554A>G
  hgvsp: ENSP00000334234.6:p.His185Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*522A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.452A>G
  hgvsp: ENSP00000439364.1:p.His151Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.953A>G
  hgvsp: ENSP00000380824.2:p.His318Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.248A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.230A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.953A>G
  hgvsp: ENSP00000396728.1:p.His318Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.953A>G
  hgvsp: ENSP00000349116.4:p.His318Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*309A>G
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His318Arg
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: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

2-110322019-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322019
    reference: chr 2
allele count: 5
allele frequency: 4.143188597944978e-5
allele num: 120680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*521C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.952C>A
  hgvsp: ENSP00000349116.4:p.His318Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.952C>A
  hgvsp: ENSP00000380824.2:p.His318Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.553C>A
  hgvsp: ENSP00000334234.6:p.His185Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.229C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.247C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.883C>A
  hgvsp: ENSP00000380826.2:p.His295Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.952C>A
  hgvsp: ENSP00000396728.1:p.His318Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*308C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.907C>A
  hgvsp: ENSP00000407790.1:p.His303Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.451C>A
  hgvsp: ENSP00000439364.1:p.His151Asn
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His318Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-110322020-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322020
    reference: chr 2
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.228G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.450G>C
  hgvsp: ENSP00000439364.1:p.Arg150Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.951G>C
  hgvsp: ENSP00000349116.4:p.Arg317Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.246G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.552G>C
  hgvsp: ENSP00000334234.6:p.Arg184Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*307G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.951G>C
  hgvsp: ENSP00000380824.2:p.Arg317Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.951G>C
  hgvsp: ENSP00000396728.1:p.Arg317Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.906G>C
  hgvsp: ENSP00000407790.1:p.Arg302Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.882G>C
  hgvsp: ENSP00000380826.2:p.Arg294Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*520G>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg317Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-110322027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322027
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322027
    reference: chr 2
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.221A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*300A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.944A>G
  hgvsp: ENSP00000349116.4:p.His315Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.944A>G
  hgvsp: ENSP00000380824.2:p.His315Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.899A>G
  hgvsp: ENSP00000407790.1:p.His300Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.239A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.875A>G
  hgvsp: ENSP00000380826.2:p.His292Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.944A>G
  hgvsp: ENSP00000396728.1:p.His315Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.443A>G
  hgvsp: ENSP00000439364.1:p.His148Arg
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*513A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.545A>G
  hgvsp: ENSP00000334234.6:p.His182Arg
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His315Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-110322032-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322032
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322032
    reference: chr 2
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.939G>C
  hgvsp: ENSP00000349116.4:p.Gln313His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*508G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.438G>C
  hgvsp: ENSP00000439364.1:p.Gln146His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.939G>C
  hgvsp: ENSP00000380824.2:p.Gln313His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.894G>C
  hgvsp: ENSP00000407790.1:p.Gln298His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.870G>C
  hgvsp: ENSP00000380826.2:p.Gln290His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.540G>C
  hgvsp: ENSP00000334234.6:p.Gln180His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.216G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.939G>C
  hgvsp: ENSP00000396728.1:p.Gln313His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*295G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.234G>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln313His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-110322039-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322039
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322039
    reference: chr 2
allele count: 15
allele frequency: 1.243471773190749e-4
allele num: 120630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.887G>T
  hgvsp: ENSP00000407790.1:p.Arg296Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.431G>T
  hgvsp: ENSP00000439364.1:p.Arg144Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.932G>T
  hgvsp: ENSP00000380824.2:p.Arg311Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.932G>T
  hgvsp: ENSP00000349116.4:p.Arg311Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.932G>T
  hgvsp: ENSP00000396728.1:p.Arg311Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.209G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.863G>T
  hgvsp: ENSP00000380826.2:p.Arg288Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*288G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*501G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.533G>T
  hgvsp: ENSP00000334234.6:p.Arg178Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.227G>T
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21025
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg311Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-110322039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322039
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322039
    reference: chr 2
allele count: 3
allele frequency: 2.486943546381497e-5
allele num: 120630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*288G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.932G>A
  hgvsp: ENSP00000349116.4:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.227G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.431G>A
  hgvsp: ENSP00000439364.1:p.Arg144Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.887G>A
  hgvsp: ENSP00000407790.1:p.Arg296Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.209G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.533G>A
  hgvsp: ENSP00000334234.6:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.932G>A
  hgvsp: ENSP00000380824.2:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.932G>A
  hgvsp: ENSP00000396728.1:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*501G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.863G>A
  hgvsp: ENSP00000380826.2:p.Arg288Gln
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg311Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-110322040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322040
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322040
    reference: chr 2
allele count: 2
allele frequency: 1.658182300562124e-5
allele num: 120614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*500C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.886C>T
  hgvsp: ENSP00000407790.1:p.Arg296Ter
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.931C>T
  hgvsp: ENSP00000396728.1:p.Arg311Ter
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.931C>T
  hgvsp: ENSP00000349116.4:p.Arg311Ter
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.226C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.931C>T
  hgvsp: ENSP00000380824.2:p.Arg311Ter
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.430C>T
  hgvsp: ENSP00000439364.1:p.Arg144Ter
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.862C>T
  hgvsp: ENSP00000380826.2:p.Arg288Ter
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.208C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*287C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.532C>T
  hgvsp: ENSP00000334234.6:p.Arg178Ter
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg311Ter
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

2-110322041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322041
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322041
    reference: chr 2
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.429G>A
  hgvsp: ENST00000545389.1:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.207G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*286G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.225G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.861G>A
  hgvsp: ENST00000397714.2:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.885G>A
  hgvsp: ENST00000437928.1:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.531G>A
  hgvsp: ENST00000334001.6:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.930G>A
  hgvsp: ENST00000356688.4:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.930G>A
  hgvsp: ENST00000397712.2:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*499G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.930G>A
  hgvsp: ENST00000415095.1:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu310Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

2-110322043-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322043
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322043
    reference: chr 2
allele count: 5
allele frequency: 4.14586822772425e-5
allele num: 120602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.928C>A
  hgvsp: ENSP00000349116.4:p.Leu310Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*497C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.529C>A
  hgvsp: ENSP00000334234.6:p.Leu177Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.928C>A
  hgvsp: ENSP00000380824.2:p.Leu310Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.859C>A
  hgvsp: ENSP00000380826.2:p.Leu287Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.883C>A
  hgvsp: ENSP00000407790.1:p.Leu295Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*284C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.928C>A
  hgvsp: ENSP00000396728.1:p.Leu310Met
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.205C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.223C>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.427C>A
  hgvsp: ENSP00000439364.1:p.Leu143Met
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu310Met
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-110322052-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322052
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322052
    reference: chr 2
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.919A>G
  hgvsp: ENSP00000396728.1:p.Met307Val
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.874A>G
  hgvsp: ENSP00000407790.1:p.Met292Val
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*275A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.919A>G
  hgvsp: ENSP00000349116.4:p.Met307Val
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*488A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.418A>G
  hgvsp: ENSP00000439364.1:p.Met140Val
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.214A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.850A>G
  hgvsp: ENSP00000380826.2:p.Met284Val
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.520A>G
  hgvsp: ENSP00000334234.6:p.Met174Val
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.919A>G
  hgvsp: ENSP00000380824.2:p.Met307Val
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.196A>G
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met307Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

2-110322054-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322054
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322054
    reference: chr 2
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*273A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.194A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.917A>G
  hgvsp: ENSP00000349116.4:p.Asn306Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.416A>G
  hgvsp: ENSP00000439364.1:p.Asn139Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.872A>G
  hgvsp: ENSP00000407790.1:p.Asn291Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.518A>G
  hgvsp: ENSP00000334234.6:p.Asn173Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*486A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.917A>G
  hgvsp: ENSP00000396728.1:p.Asn306Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.848A>G
  hgvsp: ENSP00000380826.2:p.Asn283Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.917A>G
  hgvsp: ENSP00000380824.2:p.Asn306Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.212A>G
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn306Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

2-110322055-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322055
    reference: chr 2
allele count: 6
allele frequency: 4.978509434275378e-5
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.847A>T
  hgvsp: ENSP00000380826.2:p.Asn283Tyr
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.415A>T
  hgvsp: ENSP00000439364.1:p.Asn139Tyr
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*272A>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.211A>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.916A>T
  hgvsp: ENSP00000349116.4:p.Asn306Tyr
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.871A>T
  hgvsp: ENSP00000407790.1:p.Asn291Tyr
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.916A>T
  hgvsp: ENSP00000380824.2:p.Asn306Tyr
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*485A>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.517A>T
  hgvsp: ENSP00000334234.6:p.Asn173Tyr
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.193A>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.916A>T
  hgvsp: ENSP00000396728.1:p.Asn306Tyr
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn306Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

2-110322057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322057
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322057
    reference: chr 2
allele count: 2
allele frequency: 1.659888787451241e-5
allele num: 120490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.209C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.914C>T
  hgvsp: ENSP00000380824.2:p.Thr305Ile
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.869C>T
  hgvsp: ENSP00000407790.1:p.Thr290Ile
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.191C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.845C>T
  hgvsp: ENSP00000380826.2:p.Thr282Ile
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*483C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.914C>T
  hgvsp: ENSP00000396728.1:p.Thr305Ile
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.515C>T
  hgvsp: ENSP00000334234.6:p.Thr172Ile
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.914C>T
  hgvsp: ENSP00000349116.4:p.Thr305Ile
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.413C>T
  hgvsp: ENSP00000439364.1:p.Thr138Ile
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*270C>T
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr305Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-110322060-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322060
    reference: chr 2
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*267G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.512G>C
  hgvsp: ENSP00000334234.6:p.Cys171Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.188G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.911G>C
  hgvsp: ENSP00000349116.4:p.Cys304Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.842G>C
  hgvsp: ENSP00000380826.2:p.Cys281Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.866G>C
  hgvsp: ENSP00000407790.1:p.Cys289Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.410G>C
  hgvsp: ENSP00000439364.1:p.Cys137Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.206G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*480G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.911G>C
  hgvsp: ENSP00000396728.1:p.Cys304Ser
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.911G>C
  hgvsp: ENSP00000380824.2:p.Cys304Ser
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20975
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys304Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-110322065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322065
    reference: chr 2
allele count: 2
allele frequency: 1.661377946869133e-5
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.861C>T
  hgvsp: ENST00000437928.1:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.906C>T
  hgvsp: ENST00000397712.2:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.906C>T
  hgvsp: ENST00000415095.1:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.183C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.507C>T
  hgvsp: ENST00000334001.6:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*262C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.837C>T
  hgvsp: ENST00000397714.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.405C>T
  hgvsp: ENST00000545389.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.201C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.906C>T
  hgvsp: ENST00000356688.4:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*475C>T
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu302Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-110322075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322075
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322075
    reference: chr 2
allele count: 5
allele frequency: 4.165417041554201e-5
allele num: 120036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.191G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.497G>A
  hgvsp: ENSP00000334234.6:p.Arg166Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.827G>A
  hgvsp: ENSP00000380826.2:p.Arg276Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.395G>A
  hgvsp: ENSP00000439364.1:p.Arg132Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*252G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.896G>A
  hgvsp: ENSP00000380824.2:p.Arg299Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.851G>A
  hgvsp: ENSP00000407790.1:p.Arg284Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.173G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.896G>A
  hgvsp: ENSP00000349116.4:p.Arg299Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*465G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.896G>A
  hgvsp: ENSP00000396728.1:p.Arg299Gln
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg299Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-110322076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322076
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322076
    reference: chr 2
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*251C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.496C>T
  hgvsp: ENSP00000334234.6:p.Arg166Trp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.895C>T
  hgvsp: ENSP00000349116.4:p.Arg299Trp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.826C>T
  hgvsp: ENSP00000380826.2:p.Arg276Trp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.850C>T
  hgvsp: ENSP00000407790.1:p.Arg284Trp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.172C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.394C>T
  hgvsp: ENSP00000439364.1:p.Arg132Trp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.895C>T
  hgvsp: ENSP00000380824.2:p.Arg299Trp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.895C>T
  hgvsp: ENSP00000396728.1:p.Arg299Trp
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.190C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*464C>T
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20829
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg299Trp
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: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-110322085-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322085
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322085
    reference: chr 2
allele count: 2
allele frequency: 1.671206778414693e-5
allele num: 119674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*455G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*242G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.886G>T
  hgvsp: ENSP00000396728.1:p.Val296Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.181G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.841G>T
  hgvsp: ENSP00000407790.1:p.Val281Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.817G>T
  hgvsp: ENSP00000380826.2:p.Val273Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.163G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.487G>T
  hgvsp: ENSP00000334234.6:p.Val163Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.886G>T
  hgvsp: ENSP00000349116.4:p.Val296Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.886G>T
  hgvsp: ENSP00000380824.2:p.Val296Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.385G>T
  hgvsp: ENSP00000439364.1:p.Val129Leu
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20551
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val296Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-110322085-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322085
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322085
    reference: chr 2
allele count: 1
allele frequency: 8.356033892073466e-6
allele num: 119674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.181G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.385G>C
  hgvsp: ENSP00000439364.1:p.Val129Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.841G>C
  hgvsp: ENSP00000407790.1:p.Val281Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.886G>C
  hgvsp: ENSP00000380824.2:p.Val296Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.487G>C
  hgvsp: ENSP00000334234.6:p.Val163Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*455G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.817G>C
  hgvsp: ENSP00000380826.2:p.Val273Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*242G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.886G>C
  hgvsp: ENSP00000396728.1:p.Val296Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.886G>C
  hgvsp: ENSP00000349116.4:p.Val296Leu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.163G>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val296Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-110322089-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322089
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322089
    reference: chr 2
allele count: 3
allele frequency: 2.513320599175631e-5
allele num: 119364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.882C>G
  hgvsp: ENSP00000380824.2:p.Asp294Glu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.177C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*238C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.882C>G
  hgvsp: ENSP00000396728.1:p.Asp294Glu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.837C>G
  hgvsp: ENSP00000407790.1:p.Asp279Glu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.882C>G
  hgvsp: ENSP00000349116.4:p.Asp294Glu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.813C>G
  hgvsp: ENSP00000380826.2:p.Asp271Glu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.381C>G
  hgvsp: ENSP00000439364.1:p.Asp127Glu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*451C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.483C>G
  hgvsp: ENSP00000334234.6:p.Asp161Glu
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.159C>G
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp294Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

2-110322091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322091
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322091
    reference: chr 2
allele count: 4
allele frequency: 3.353172939894375e-5
allele num: 119290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.835G>A
  hgvsp: ENSP00000407790.1:p.Asp279Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.481G>A
  hgvsp: ENSP00000334234.6:p.Asp161Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.811G>A
  hgvsp: ENSP00000380826.2:p.Asp271Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.175G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.379G>A
  hgvsp: ENSP00000439364.1:p.Asp127Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*236G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*449G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.157G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.880G>A
  hgvsp: ENSP00000396728.1:p.Asp294Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.880G>A
  hgvsp: ENSP00000349116.4:p.Asp294Asn
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.880G>A
  hgvsp: ENSP00000380824.2:p.Asp294Asn
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp294Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-110322092-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322092
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322092
    reference: chr 2
allele count: 1
allele frequency: 8.385884878572387e-6
allele num: 119248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.378T>C
  hgvsp: ENST00000545389.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.879T>C
  hgvsp: ENST00000356688.4:c.879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*235T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.174T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.480T>C
  hgvsp: ENST00000334001.6:c.480T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.834T>C
  hgvsp: ENST00000437928.1:c.834T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.810T>C
  hgvsp: ENST00000397714.2:c.810T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.879T>C
  hgvsp: ENST00000397712.2:c.879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*448T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.879T>C
  hgvsp: ENST00000415095.1:c.879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.156T>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys293Cys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-110322093-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322093
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322093
    reference: chr 2
allele count: 2
allele frequency: 1.680502806439687e-5
allele num: 119012
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.878G>T
  hgvsp: ENSP00000380824.2:p.Cys293Phe
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.479G>T
  hgvsp: ENSP00000334234.6:p.Cys160Phe
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*234G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*447G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.878G>T
  hgvsp: ENSP00000396728.1:p.Cys293Phe
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.833G>T
  hgvsp: ENSP00000407790.1:p.Cys278Phe
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.809G>T
  hgvsp: ENSP00000380826.2:p.Cys270Phe
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.878G>T
  hgvsp: ENSP00000349116.4:p.Cys293Phe
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.155G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.173G>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.377G>T
  hgvsp: ENSP00000439364.1:p.Cys126Phe
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys293Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-110322102-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322102
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322102
    reference: chr 2
allele count: 1
allele frequency: 8.445803280349994e-6
allele num: 118402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*438A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.824A>G
  hgvsp: ENSP00000407790.1:p.Glu275Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.164A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*225A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.800A>G
  hgvsp: ENSP00000380826.2:p.Glu267Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.470A>G
  hgvsp: ENSP00000334234.6:p.Glu157Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.869A>G
  hgvsp: ENSP00000349116.4:p.Glu290Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.290A>G
  hgvsp: ENSP00000445707.1:p.Glu97Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.869A>G
  hgvsp: ENSP00000380824.2:p.Glu290Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.368A>G
  hgvsp: ENSP00000439364.1:p.Glu123Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.869A>G
  hgvsp: ENSP00000396728.1:p.Glu290Gly
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.146A>G
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu290Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-110322106-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322106
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322106
    reference: chr 2
allele count: 10
allele frequency: 8.504703100814751e-5
allele num: 117582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.865A>C
  hgvsp: ENSP00000396728.1:p.Asn289His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.796A>C
  hgvsp: ENSP00000380826.2:p.Asn266His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.865A>C
  hgvsp: ENSP00000380824.2:p.Asn289His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.865A>C
  hgvsp: ENSP00000349116.4:p.Asn289His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.466A>C
  hgvsp: ENSP00000334234.6:p.Asn156His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.160A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.820A>C
  hgvsp: ENSP00000407790.1:p.Asn274His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.286A>C
  hgvsp: ENSP00000445707.1:p.Asn96His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*434A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.364A>C
  hgvsp: ENSP00000439364.1:p.Asn122His
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*221A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.142A>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn289His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-110322109-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322109
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322109
    reference: chr 2
allele count: 1
allele frequency: 8.565750702391558e-6
allele num: 116744
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.862G>C
  hgvsp: ENSP00000380824.2:p.Glu288Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.283G>C
  hgvsp: ENSP00000445707.1:p.Glu95Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.862G>C
  hgvsp: ENSP00000349116.4:p.Glu288Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.139G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*218G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.157G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.862G>C
  hgvsp: ENSP00000396728.1:p.Glu288Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.463G>C
  hgvsp: ENSP00000334234.6:p.Glu155Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.793G>C
  hgvsp: ENSP00000380826.2:p.Glu265Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*431G>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.817G>C
  hgvsp: ENSP00000407790.1:p.Glu273Gln
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.361G>C
  hgvsp: ENSP00000439364.1:p.Glu121Gln
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17844
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu288Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

2-110322111-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322111
    reference: chr 2
allele count: 1
allele frequency: 8.621878879845495e-6
allele num: 115984
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860T>C
  hgvsp: ENSP00000380824.2:p.Val287Ala
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791T>C
  hgvsp: ENSP00000380826.2:p.Val264Ala
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860T>C
  hgvsp: ENSP00000349116.4:p.Val287Ala
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860T>C
  hgvsp: ENSP00000396728.1:p.Val287Ala
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815T>C
  hgvsp: ENSP00000407790.1:p.Val272Ala
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281T>C
  hgvsp: ENSP00000445707.1:p.Val94Ala
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461T>C
  hgvsp: ENSP00000334234.6:p.Val154Ala
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359T>C
  hgvsp: ENSP00000439364.1:p.Val120Ala
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216T>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val287Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-110322115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322115
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322115
    reference: chr 2
allele count: 1
allele frequency: 8.689456213830139e-6
allele num: 115082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-4C>T
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-4C>T
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.860-4C>T
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-110322115-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322115
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322115
    reference: chr 2
allele count: 4
allele frequency: 3.475782485532055e-5
allele num: 115082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-4C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-4C>G
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.860-4C>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-110322117-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322117
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322118
    reference: chr 2
allele count: 1905
allele frequency: 2.066429470213043e-2
allele num: 92188
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-7dupT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-7dupT
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 2.25e1
  variant carriers: 487
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 3.75e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 1.25e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 1.75e1
  variant carriers: 313
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 3.25e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: c.860-7dupT
num of homozygotes: 16
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/2-110322117-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322117
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322116
    reference: chr 2
allele count: 714
allele frequency: 7.745042738751247e-3
allele num: 92188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-7delT
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-7delT
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 1.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 1.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 3.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 2.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17386
  bin: 2.75e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: c.860-7delT
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: CA
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-110322122-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322122
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322122
    reference: chr 2
allele count: 1
allele frequency: 9.046171660153422e-6
allele num: 110544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-11T>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-11T>G
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS

2-110322126-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322126
    reference: chr 2
allele count: 1
allele frequency: 9.114440920193956e-6
allele num: 109716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-15T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-15T>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22150
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

2-110322128-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322128
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322128
    reference: chr 2
allele count: 1
allele frequency: 9.146118387356406e-6
allele num: 109336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-17T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-17T>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-110322142-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322142
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322142
    reference: chr 2
allele count: 2
allele frequency: 1.904544242562755e-5
allele num: 105012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-31T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-31T>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

2-110322147-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322147
    reference: chr 2
allele count: 1
allele frequency: 9.624453812246155e-6
allele num: 103902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-36T>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-36T>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-110322148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322148
    reference: chr 2
allele count: 1
allele frequency: 9.676982329830266e-6
allele num: 103338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-37A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-37A>G
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-110322149-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322149
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322149
    reference: chr 2
allele count: 1
allele frequency: 9.672302394862073e-6
allele num: 103388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-38A>C
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-38A>C
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14358
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

2-110322163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110322163
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110322163
    reference: chr 2
allele count: 1
allele frequency: 1.01547585198424e-5
allele num: 98476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.791-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.155-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.359-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.461-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.815-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.281-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.137-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.860-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*429-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*216-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.860-52G>A
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.860-52G>A
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16023
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-110323289-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110323289
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110323289
    reference: chr 2
allele count: 2
allele frequency: 1.658017342861406e-5
allele num: 120626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.280+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.154+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.790+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.460+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.859+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*428+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.358+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.859+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.814+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.859+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.136+51A>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*215+51A>G
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-110323291-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110323291
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 110323291
    reference: chr 2
allele count: 156
allele frequency: 1.293982979146967e-3
allele num: 120558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380826
  ensembl transcript: ENST00000397714
  gene symbol: SEPT10
  hgvsc: ENST00000397714.2:c.790+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000445707
  ensembl transcript: ENST00000493445
  gene symbol: SEPT10
  hgvsc: ENST00000493445.1:c.280+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000349116
  ensembl transcript: ENST00000356688
  gene symbol: SEPT10
  hgvsc: ENST00000356688.4:c.859+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000380824
  ensembl transcript: ENST00000397712
  gene symbol: SEPT10
  hgvsc: ENST00000397712.2:c.859+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000468616
  gene symbol: SEPT10
  hgvsc: ENST00000468616.1:n.154+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000396728
  ensembl transcript: ENST00000415095
  gene symbol: SEPT10
  hgvsc: ENST00000415095.1:c.859+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000407790
  ensembl transcript: ENST00000437928
  gene symbol: SEPT10
  hgvsc: ENST00000437928.1:c.814+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000399270
  ensembl transcript: ENST00000425498
  gene symbol: SEPT10
  hgvsc: ENST00000425498.1:c.*215+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000439364
  ensembl transcript: ENST00000545389
  gene symbol: SEPT10
  hgvsc: ENST00000545389.1:c.358+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000446331
  ensembl transcript: ENST00000486678
  gene symbol: SEPT10
  hgvsc: ENST00000486678.2:c.*428+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl protein: ENSP00000334234
  ensembl transcript: ENST00000334001
  gene symbol: SEPT10
  hgvsc: ENST00000334001.6:c.460+49C>G
  variant of: http://identifiers.org/hgnc/14349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186522
  ensembl transcript: ENST00000483047
  gene symbol: SEPT10
  hgvsc: ENST00000483047.1:n.136+49C>G
  variant of: http://identifiers.org/hgnc/14349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 4
population: South Asian
population: African
population: Latino
reference allele: G

GenotypeQuality
all individuals: 786
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7896
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26255
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7405
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64832
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.612e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.818e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.126e0

FS
type: SiteQuality
SIO_000300: 1.566e1

MQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.926215e6

MQ
type: SiteQuality
SIO_000300: 5.843e1

GenotypeQuality
all individuals: 2604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7898
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3414
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26673
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64894
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.321e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.927618e6

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 7.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
all individuals: 1230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540832049306625e-5
allele num: 64900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

FS
type: SiteQuality
SIO_000300: 1.687e0

DP
type: SiteQuality
SIO_000300: 1.929607e6

QD
type: SiteQuality
SIO_000300: 1.467e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

MQ
type: SiteQuality
SIO_000300: 5.789e1

GenotypeQuality
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27696
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7894
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538745614574998e-5
allele num: 64988
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

MQ
type: SiteQuality
SIO_000300: 5.527e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 1.93773e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.23e0

QD
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 2898
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7892
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2730
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7508
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538130248869474e-5
allele num: 65014
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11852
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.054e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.94194e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

MQ
type: SiteQuality
SIO_000300: 5.858e1

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

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

GenotypeQuality
all individuals: 2681
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 3.75e1
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GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7563
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.059316569954868e-5
allele num: 12408
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.045e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.59e-1

FS
type: SiteQuality
SIO_000300: 5.968e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.98e-1

DP
type: SiteQuality
SIO_000300: 1.953688e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.727e0

VQSLOD
type: SiteQuality
SIO_000300: -5.342e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7893
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 2634
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variant carriers: 0

GenotypeQuality
all individuals: 95
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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: 1796
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2737
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29287
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522765341860819e-5
allele num: 65670
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13394
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 6.024e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.486e0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.565e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.967421e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 1212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29530
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variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 7996
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variant carriers: 429

GenotypeQuality
all individuals: 350
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variant carriers: 0

GenotypeQuality
all individuals: 121
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variant carriers: 0

GenotypeQuality
all individuals: 368
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GenotypeQuality
all individuals: 3411
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 241
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GenotypeQuality
all individuals: 1784
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 7652
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variant carriers: 0

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

African
type: Population
allele count: 8
allele frequency: 8.188331627430911e-4
allele num: 9770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 385
allele frequency: 5.853554704129417e-3
allele num: 65772
num of homozygotes: 2

Latino
type: Population
allele count: 17
allele frequency: 1.471861471861472e-3
allele num: 11550
num of homozygotes: 1

Other
type: Population
allele count: 6
allele frequency: 6.928406466512702e-3
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.291818579553741e-5
allele num: 13714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.267916540671303e-3
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.506e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.786e1

DP
type: SiteQuality
SIO_000300: 1.994043e6

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7722
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 29886
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variant carriers: 0

GenotypeQuality
all individuals: 1803
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variant carriers: 0

GenotypeQuality
all individuals: 3437
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variant carriers: 0

GenotypeQuality
all individuals: 335
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variant carriers: 0

GenotypeQuality
all individuals: 2662
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variant carriers: 0

GenotypeQuality
all individuals: 226
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 2742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
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variant carriers: 0

GenotypeQuality
all individuals: 7654
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1803
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.298850574712644e-3
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517727051966974e-5
allele num: 65888
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: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.147940881044626e-3
allele num: 13938
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.458e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.548e1

MQ
type: SiteQuality
SIO_000300: 5.809e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 3.266e0

DP
type: SiteQuality
SIO_000300: 1.971588e6

GenotypeQuality
all individuals: 7636
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 8.25e1
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GenotypeQuality
all individuals: 1223
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 337
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GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 29941
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 2658
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variant carriers: 0

GenotypeQuality
all individuals: 122
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GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7726
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14008
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.319e0

VQSLOD
type: SiteQuality
SIO_000300: -1.641e0

MQ
type: SiteQuality
SIO_000300: 5.769e1

DP
type: SiteQuality
SIO_000300: 1.972444e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 1.093e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 3403
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 145
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variant carriers: 0

GenotypeQuality
all individuals: 261
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variant carriers: 0

GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 283
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variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 356
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7630
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1793
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variant carriers: 0

GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 239
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022335056064315e-5
allele num: 66174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14860
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

FS
type: SiteQuality
SIO_000300: 3.899e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.272e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

DP
type: SiteQuality
SIO_000300: 1.990185e6

QD
type: SiteQuality
SIO_000300: 8.09e0

VQSLOD
type: SiteQuality
SIO_000300: -1.102e0

MQ
type: SiteQuality
SIO_000300: 5.836e1

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

GenotypeQuality
all individuals: 30381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 7621
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GenotypeQuality
all individuals: 1204
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GenotypeQuality
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GenotypeQuality
all individuals: 345
bin: 3.25e1
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GenotypeQuality
all individuals: 3407
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variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 7.25e1
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GenotypeQuality
all individuals: 7756
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14970
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

DP
type: SiteQuality
SIO_000300: 1.992762e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.749e0

VQSLOD
type: SiteQuality
SIO_000300: -2.513e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 1.49134e2

MQ
type: SiteQuality
SIO_000300: 5.69e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 1717
bin: 9.25e1
variant carriers: 62

GenotypeQuality
all individuals: 754
bin: 2.5e0
variant carriers: 30

GenotypeQuality
all individuals: 6807
bin: 9.75e1
variant carriers: 1902

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 38

GenotypeQuality
all individuals: 1169
bin: 8.75e1
variant carriers: 51

GenotypeQuality
all individuals: 3294
bin: 7.75e1
variant carriers: 59

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 56

GenotypeQuality
all individuals: 384
bin: 3.25e1
variant carriers: 63

GenotypeQuality
all individuals: 1149
bin: 2.25e1
variant carriers: 51

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 60

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 69

GenotypeQuality
all individuals: 166
bin: 1.25e1
variant carriers: 52

GenotypeQuality
all individuals: 7545
bin: 6.75e1
variant carriers: 53

GenotypeQuality
all individuals: 30073
bin: 6.25e1
variant carriers: 57

GenotypeQuality
all individuals: 266
bin: 4.75e1
variant carriers: 53

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 54

GenotypeQuality
all individuals: 2587
bin: 8.25e1
variant carriers: 58

GenotypeQuality
all individuals: 361
bin: 3.75e1
variant carriers: 63

East Asian
type: Population
allele count: 70
allele frequency: 8.185219831618335e-3
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 433
allele frequency: 4.633989726027397e-2
allele num: 9344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 501
allele frequency: 7.922201138519924e-2
allele num: 6324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1661
allele frequency: 2.558297138280504e-2
allele num: 64926
num of homozygotes: 0

Latino
type: Population
allele count: 66
allele frequency: 5.745125348189415e-3
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.28680941052075e-4
allele num: 15132
num of homozygotes: 0

Other
type: Population
allele count: 38
allele frequency: 4.398148148148148e-2
allele num: 864
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e0

FS
type: SiteQuality
SIO_000300: 1.6147e2

DP
type: SiteQuality
SIO_000300: 2.138558e6

VQSLOD
type: SiteQuality
SIO_000300: -1.294e2

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.947e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.525e0

MQ
type: SiteQuality
SIO_000300: 5.584e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

QD
type: SiteQuality
SIO_000300: 1.6e0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 311
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 31169
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 109
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2703
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 328
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 352
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 282
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1192
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2720
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 951
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5773
bin: 9.75e1
variant carriers: 310

GenotypeQuality
all individuals: 1816
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3433
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 363
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 83
allele frequency: 1.278102864182322e-2
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 44
allele frequency: 4.572853876532945e-3
allele num: 9622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15298
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.545454545454545e-3
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 204
allele frequency: 3.094566305633931e-3
allele num: 65922
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.164958061509786e-3
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.066909343040389e-4
allele num: 11538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e0

VQSLOD
type: SiteQuality
SIO_000300: -3.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.116e0

MQ
type: SiteQuality
SIO_000300: 5.294e1

FS
type: SiteQuality
SIO_000300: 8.6575e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 1.924088e6

QD
type: SiteQuality
SIO_000300: 3.9e0

GenotypeQuality
all individuals: 32433
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5600
bin: 9.75e1
variant carriers: 56

GenotypeQuality
all individuals: 8207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.58164450755131e-4
allele num: 15494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

East Asian
type: Population
allele count: 52
allele frequency: 6.033882571362265e-3
allele num: 8618
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.492e1

VQSLOD
type: SiteQuality
SIO_000300: -1.098e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

FS
type: SiteQuality
SIO_000300: 1.739e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 1.896748e6

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5543
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01295570955107e-5
allele num: 66380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15522
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.907e0

DP
type: SiteQuality
SIO_000300: 1.894005e6

FS
type: SiteQuality
SIO_000300: 5.8362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

QD
type: SiteQuality
SIO_000300: 5.86e0

VQSLOD
type: SiteQuality
SIO_000300: -1.937e1

MQ
type: SiteQuality
SIO_000300: 5.216e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.625e0

GenotypeQuality
all individuals: 8153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 219
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3500
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5534
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.409e1

VQSLOD
type: SiteQuality
SIO_000300: -1.507e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.934e0

DP
type: SiteQuality
SIO_000300: 1.897142e6

FS
type: SiteQuality
SIO_000300: 6.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33062
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5533
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2792
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

FS
type: SiteQuality
SIO_000300: 1.006e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.008e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 9.32e0

DP
type: SiteQuality
SIO_000300: 1.898713e6

MQ
type: SiteQuality
SIO_000300: 5.401e1

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

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3512
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5524
bin: 9.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.901065e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.369e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.499e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.257e1

GenotypeQuality
all individuals: 135
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8239
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2793
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5524
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2765
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
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: 892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.064e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 1.902042e6

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.176e0

FS
type: SiteQuality
SIO_000300: 3.569e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.145e0

MQ
type: SiteQuality
SIO_000300: 5.298e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2783
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.507958435942099e-5
allele num: 66596
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.02e0

DP
type: SiteQuality
SIO_000300: 1.908917e6

MQ
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SIO_000300: 5.519e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 2.4e-3

QD
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SIO_000300: 1.058e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.823e0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.477e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.593e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

DP
type: SiteQuality
SIO_000300: 1.911791e6

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
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variant carriers: 0

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
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 9800
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.222e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 5.757e0

QD
type: SiteQuality
SIO_000300: 1.189e1

VQSLOD
type: SiteQuality
SIO_000300: -2.539e0

MQ
type: SiteQuality
SIO_000300: 5.195e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.956e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.913341e6

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

GenotypeQuality
all individuals: 3504
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.274e1

MQ
type: SiteQuality
SIO_000300: 5.414e1

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.634e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 1.915714e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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
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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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variant carriers: 39

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

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

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

African
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allele count: 32
allele frequency: 3.26530612244898e-3
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499235130027895e-5
allele num: 66678
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.414e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.915714e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.213444970270598e-4
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: 9800
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.653e0

MQRankSum
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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SIO_000300: -5.09e-1

VQSLOD
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DP
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GenotypeDepth
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
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South Asian
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allele count: 0
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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SIO_000300: 1.9495e1

VQSLOD
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QD
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GenotypeDepth
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variant carriers: 1

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.496926260233305e-5
allele num: 66694
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.913525e6

QD
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MQRankSum
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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SIO_000300: 3.2e-3

BaseQRankSum
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SIO_000300: -5.139e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

GenotypeDepth
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variant carriers: 1

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

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: 9800
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66694
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 num: 11564
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VQSLOD
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SIO_000300: -1.042e0

ReadPosRankSum
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SIO_000300: -4.34e-1

DP
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FS
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 1.7e-3

BaseQRankSum
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SIO_000300: -3.328e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

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

East Asian
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allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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ReadPosRankSum
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SIO_000300: 1.1e0

QD
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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VQSLOD
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DP
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SIO_000300: 1.913188e6

BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.01e0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

South Asian
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allele count: 0
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InbreedingCoeff
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SIO_000300: 2.3e-3

QD
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VQSLOD
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ClippingRankSum
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SIO_000300: -2.426e0

FS
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.912915e6

MQ
type: SiteQuality
SIO_000300: 5.555e1

ReadPosRankSum
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SIO_000300: 2.67e0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
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

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.649868010559155e-4
allele num: 66672
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 count: 4
allele frequency: 3.462004500605851e-4
allele num: 11554
num of homozygotes: 0

FS
type: SiteQuality
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QD
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 1.96e-2

MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
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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European (Finnish)
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num of homozygotes: 0

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

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

Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

Other
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European (Finnish)
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African
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South Asian
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East Asian
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European (Non-Finnish)
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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QD
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16494
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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allele count: 1
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allele num: 8602
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 4.0e-1

InbreedingCoeff
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QD
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DP
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MQRankSum
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ReadPosRankSum
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SIO_000300: -6.0e-3

FS
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SIO_000300: 3.451e0

BaseQRankSum
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SIO_000300: -3.596e0

MQ
type: SiteQuality
SIO_000300: 5.62e1

VQSLOD
type: SiteQuality
SIO_000300: -9.131e-1

GenotypeDepth
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variant carriers: 0

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

East 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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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 6.000780101413184e-5
allele num: 66658
num of homozygotes: 0

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

Latino
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VQSLOD
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QD
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MQ
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

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: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
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SIO_000300: 5.221e0

MQ
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SIO_000300: 5.824e1

ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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SIO_000300: 8.609999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

QD
type: SiteQuality
SIO_000300: 1.758e1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10
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variant carriers: 0

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

Other
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

BaseQRankSum
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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DP
type: SiteQuality
SIO_000300: 1.910636e6

MQ
type: SiteQuality
SIO_000300: 5.853e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 9.004412161959359e-5
allele num: 66634
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

Other
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num of homozygotes: 0

Latino
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allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.164958061509786e-4
allele num: 8584
num of homozygotes: 0

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

Other
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South Asian
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allele num: 16422
num of homozygotes: 0

Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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MQRankSum
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QD
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VQSLOD
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DP
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FS
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SIO_000300: 1.522e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.844e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.536e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.052123948286476e-4
allele num: 9746
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.143260842855388e-5
allele num: 16278
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.03951367781155e-4
allele num: 6580
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 6.94e0

ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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SIO_000300: 1.900747e6

MQRankSum
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SIO_000300: 2.21e-1

BaseQRankSum
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SIO_000300: 2.72e0

ReadPosRankSum
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SIO_000300: 2.21e-1

QD
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SIO_000300: 1.133e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9746
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: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
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allele frequency: 1.169043722235212e-4
allele num: 8554
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BaseQRankSum
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SIO_000300: -1.662e0

MQ
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SIO_000300: 5.868e1

MQRankSum
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SIO_000300: 3.76e-1

InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.97e-1

FS
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DP
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SIO_000300: 1.900198e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66342
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.206554121151936e-5
allele num: 16112
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.852e1

InbreedingCoeff
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SIO_000300: 8.0e-4

VQSLOD
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BaseQRankSum
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QD
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FS
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SIO_000300: 1.658e0

MQRankSum
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DP
type: SiteQuality
SIO_000300: 1.88979e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2718
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16112
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507340749449821e-5
allele num: 66342
num of homozygotes: 0

Other
type: Population
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
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.852e1

MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: 8.0e-4

DP
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
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SIO_000300: 1.658e0

QD
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15986
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.52980612429788e-5
allele num: 66228
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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MQ
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SIO_000300: 5.834e1

GenotypeDepth
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variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.042296072507553e-5
allele num: 66200
num of homozygotes: 0

East Asian
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African
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num of homozygotes: 0

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

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

Other
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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: 15944
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.869966e6

MQRankSum
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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BaseQRankSum
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SIO_000300: -1.232e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15604
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.183992422448496e-4
allele num: 8446
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: 6.01e-1

ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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MQ
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SIO_000300: 5.944e1

ReadPosRankSum
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SIO_000300: 5.48e-1

QD
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SIO_000300: 7.74e0

DP
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GenotypeDepth
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variant carriers: 0

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: 10

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

South Asian
type: Population
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: 11392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.527370478983382e-4
allele num: 65472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 6.59e-1

VQSLOD
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SIO_000300: -2.752e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

BaseQRankSum
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SIO_000300: 1.43e0

InbreedingCoeff
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SIO_000300: 2.3e-3

ClippingRankSum
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SIO_000300: 4.02e-1

MQ
type: SiteQuality
SIO_000300: 5.824e1

DP
type: SiteQuality
SIO_000300: 1.82596e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3314
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.632179334129194e-5
allele num: 15078
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

DP
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SIO_000300: 1.801698e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
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MQ
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SIO_000300: 5.79e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

FS
type: SiteQuality
SIO_000300: 2.116e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.819e0

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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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64620
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6484
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South Asian
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allele count: 1
allele frequency: 6.718624025799516e-5
allele num: 14884
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
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VQSLOD
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.218026796589525e-4
allele num: 8210
num of homozygotes: 0

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

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

European (Finnish)
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MQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.9e-3

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.230723698557587e-5
allele num: 64198
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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DP
type: SiteQuality
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MQ
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -7.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

QD
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SIO_000300: 1.148e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.058e-1

GenotypeDepth
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variant carriers: 9

GenotypeDepth
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variant carriers: 504

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 70

GenotypeQuality
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GenotypeQuality
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variant carriers: 79

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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variant carriers: 1458

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8

GenotypeQuality
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bin: 6.25e1
variant carriers: 19

South Asian
type: Population
allele count: 98
allele frequency: 9.701049297168878e-3
allele num: 10102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 171
allele frequency: 2.987421383647799e-2
allele num: 5724
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 1237
allele frequency: 2.372913869173221e-2
allele num: 52130
num of homozygotes: 11

African
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allele count: 61
allele frequency: 7.725430597771023e-3
allele num: 7896
num of homozygotes: 0

Latino
type: Population
allele count: 141
allele frequency: 1.576475849731664e-2
allele num: 8944
num of homozygotes: 1

Other
type: Population
allele count: 23
allele frequency: 3.185595567867036e-2
allele num: 722
num of homozygotes: 0

East Asian
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allele count: 174
allele frequency: 2.608695652173913e-2
allele num: 6670
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 5.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 1.732373e6

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

GenotypeDepth
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variant carriers: 17

GenotypeDepth
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variant carriers: 30

GenotypeDepth
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variant carriers: 78

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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variant carriers: 93

GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 80

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 287
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variant carriers: 10

African
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allele count: 45
allele frequency: 5.699088145896656e-3
allele num: 7896
num of homozygotes: 0

South Asian
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allele count: 97
allele frequency: 9.602058998218175e-3
allele num: 10102
num of homozygotes: 0

East Asian
type: Population
allele count: 40
allele frequency: 5.997001499250375e-3
allele num: 6670
num of homozygotes: 0

European (Non-Finnish)
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allele count: 465
allele frequency: 8.920007673124879e-3
allele num: 52130
num of homozygotes: 0

Latino
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allele count: 55
allele frequency: 6.149373881932022e-3
allele num: 8944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.222921034241789e-3
allele num: 5724
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 6.925207756232687e-3
allele num: 722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

FS
type: SiteQuality
SIO_000300: 8.27e-1

DP
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SIO_000300: 1.732373e6

BaseQRankSum
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SIO_000300: -3.65e-1

VQSLOD
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SIO_000300: 4.18e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

QD
type: SiteQuality
SIO_000300: 5.22e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1137
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GenotypeQuality
all individuals: 4757
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11006
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.64525993883792e-5
allele num: 13080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

VQSLOD
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SIO_000300: -1.872e0

DP
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SIO_000300: 1.421375e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 1.816e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 603
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2526
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GenotypeQuality
all individuals: 281
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10940
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.795447458684128e-5
allele num: 12828
num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.03e0

DP
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SIO_000300: 1.391962e6

InbreedingCoeff
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SIO_000300: -1.5e-3

ReadPosRankSum
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BaseQRankSum
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VQSLOD
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SIO_000300: -1.05e-1

FS
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SIO_000300: 0.0e0

MQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 332
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9176
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626756897449245e-5
allele num: 61472
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -7.0e-4

FS
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1850
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GenotypeQuality
all individuals: 899
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

African
type: Population
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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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: 6302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.362135628551256e-5
allele num: 59486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.293e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 818
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.133786848072562e-4
allele num: 8820
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
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SIO_000300: 5.836e1

DP
type: SiteQuality
SIO_000300: 1.100474e6

MQRankSum
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SIO_000300: 3.55e-1

InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

FS
type: SiteQuality
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QD
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SIO_000300: 6.77e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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 frequency: 9.46611132146914e-5
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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

African
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South Asian
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European (Finnish)
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num of homozygotes: 0

Other
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.1e-3

DP
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SIO_000300: 1.085233e6

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

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

European (Non-Finnish)
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allele frequency: 1.705029838022165e-5
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

FS
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InbreedingCoeff
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QD
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 5.801e1

BaseQRankSum
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SIO_000300: 5.43e-1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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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
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num of homozygotes: 0

East Asian
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European (Finnish)
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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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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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QD
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ClippingRankSum
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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: 11558
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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allele frequency: 1.214181641573579e-4
allele num: 16472
num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

BaseQRankSum
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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ClippingRankSum
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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: 152

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

African
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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
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