http://identifiers.org/exac.variant/9-138677267-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677267
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677267
    reference: chr 9
allele count: 346
allele frequency: 3.231228987672768e-2
allele num: 10708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+91A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+91A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+91A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3087A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+532A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+91A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+91A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+91A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+91A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+91A>C
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 2.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 9
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/9-138677271-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677271
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677271
    reference: chr 9
allele count: 116
allele frequency: 1.002419633598341e-2
allele num: 11572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+95A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+95A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+95A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+95A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+536A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+95A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3091A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+95A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+95A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+95A>C
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 6.75e1
  variant carriers: 3
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: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-138677272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677272
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677272
    reference: chr 9
allele count: 1
allele frequency: 7.891414141414142e-5
allele num: 12672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+96C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+96C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+96C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+537C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3092C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+96C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+96C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+96C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+96C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+96C>T
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5411
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-138677274-CACAGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677274
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677268
    reference: chr 9
allele count: 2
allele frequency: 1.585037248375337e-4
allele num: 12618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3095_3100delACAGGG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+99_3177+104delACAGGG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+540_3099+545delACAGGG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+99_3048+104delACAGGG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+99_3177+104delACAGGG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+99_3114+104delACAGGG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+99_3072+104delACAGGG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+99_3111+104delACAGGG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+99_3042+104delACAGGG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+99_*2787+104delACAGGG
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: CACAGGG
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/9-138677275-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677275
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677275
    reference: chr 9
allele count: 12
allele frequency: 9.942004971002485e-4
allele num: 12070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3095A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+99A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+99A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+99A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+99A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+540A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+99A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+99A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+99A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+99A>C
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/9-138677277-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677277
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677277
    reference: chr 9
allele count: 1
allele frequency: 8.110300081103001e-5
allele num: 12330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+101A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+101A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+542A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+101A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+101A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+101A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+101A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3097A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+101A>C
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+101A>C
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

9-138677277-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677277
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677276
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 12330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+104delG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+104delG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+104delG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+104delG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+104delG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+545delG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+104delG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+104delG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3100delG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+104delG
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: AG
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

9-138677294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677294
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677294
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 11202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3114G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+118G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+118G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+118G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+118G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+118G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+118G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+559G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+118G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+118G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

9-138677301-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677301
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677301
    reference: chr 9
allele count: 3
allele frequency: 2.852253280091272e-4
allele num: 10518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+125G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+125G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+125G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+125G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+125G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+125G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+566G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+125G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3121G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+125G>T
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

9-138677304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677304
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677304
    reference: chr 9
allele count: 4
allele frequency: 4.050222762251924e-4
allele num: 9876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+128C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+128C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+128C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+128C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+128C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+128C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+128C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+128C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+569C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3124C>T
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

9-138677305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677305
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677305
    reference: chr 9
allele count: 214
allele frequency: 2.161616161616162e-2
allele num: 9900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+129G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+129G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+129G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+129G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+129G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+129G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3125G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+570G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+129G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+129G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.75e1
  variant carriers: 205
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 7.5e0
  variant carriers: 6
num of homozygotes: 3
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

9-138677313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677313
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677313
    reference: chr 9
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+137C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+578C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+137C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3133C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+137C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+137C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+137C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+137C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+137C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+137C>T
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/9-138677325-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677325
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677325
    reference: chr 9
allele count: 9
allele frequency: 1.267248662348634e-3
allele num: 7102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3145C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+149C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+149C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+590C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+149C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+149C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+149C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+149C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+149C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+149C>A
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

9-138677352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677352
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677352
    reference: chr 9
allele count: 1
allele frequency: 2.797985450475658e-4
allele num: 3574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+176G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+176G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+176G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3172G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+617G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+176G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+176G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+176G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+176G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+176G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

9-138677353-ACACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677353
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677349
    reference: chr 9
allele count: 3
allele frequency: 8.571428571428571e-4
allele num: 3500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+183_3042+186delACTC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3179_3182delACTC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+624_3099+627delACTC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+183_3048+186delACTC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+183_3072+186delACTC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+183_3111+186delACTC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+183_3177+186delACTC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+183_3114+186delACTC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+183_*2787+186delACTC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+183_3177+186delACTC
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 6
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: ACACT
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-138677355-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677355
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677355
    reference: chr 9
allele count: 1
allele frequency: 3.103662321539416e-4
allele num: 3222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3175A>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+179A>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+179A>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+179A>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+179A>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+179A>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+179A>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+179A>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+620A>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+179A>G
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

9-138677383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677383
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677383
    reference: chr 9
allele count: 2
allele frequency: 1.642036124794745e-3
allele num: 1218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+207G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+207G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3099+648G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+207G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+207G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+207G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3203G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+207G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+207G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+207G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

9-138677396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677396
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677396
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 662
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+220G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+220G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3216G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-647G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+220G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+220G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+220G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+220G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+220G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+220G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

9-138677397-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677397
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677397
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3111+221G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3072+221G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3042+221G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2787+221G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3217G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3048+221G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-646G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3177+221G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3114+221G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3177+221G>T
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

9-138677993-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677993
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677993
    reference: chr 9
allele count: 2
allele frequency: 3.22393448965117e-5
allele num: 62036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-50C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3813C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-50C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-50C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-50C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-50C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-50C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-50C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-50C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-50C>G
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

9-138677997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677997
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677997
    reference: chr 9
allele count: 2
allele frequency: 3.240020736132711e-5
allele num: 61728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3817C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-46C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-46C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-46C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-46C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-46C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-46C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-46C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-46C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-46C>T
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18580
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

9-138677998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138677998
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138677998
    reference: chr 9
allele count: 5
allele frequency: 8.135107871530377e-5
allele num: 61462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-45G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-45G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3818G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-45G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-45G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-45G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-45G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-45G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-45G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-45G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12950
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4632
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

9-138678001-A-AGCCTCACCCCTCCCCGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678001
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678019
    reference: chr 9
allele count: 1
allele frequency: 1.610046691354049e-5
allele num: 62110
alternate allele: AGCCTCACCCCTCCCCGCC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

9-138678012-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678012
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678012
    reference: chr 9
allele count: 1
allele frequency: 1.546838262591263e-5
allele num: 64648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-31T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-31T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3832T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-31T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-31T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-31T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-31T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-31T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-31T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-31T>G
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-138678014-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678014
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678014
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 64430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3834C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-29C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-29C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-29C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-29C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-29C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-29C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-29C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-29C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-29C>A
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16581
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

9-138678016-C-CGCCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678016
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678021
    reference: chr 9
allele count: 389
allele frequency: 5.223579965086612e-3
allele num: 74470
alternate allele: CGCCCT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-7_3178-3dupTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-7_*2788-3dupTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-7_3049-3dupTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-7_3178-3dupTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-7_3043-3dupTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-7_3112-3dupTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3856_3860dupTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-7_3100-3dupTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-7_3115-3dupTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-7_3073-3dupTGCCC
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 1.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 1.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 7.5e0
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 2.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

9-138678016-C-CGCCCTGCCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678016
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678026
    reference: chr 9
allele count: 35
allele frequency: 4.699879145964818e-4
allele num: 74470
alternate allele: CGCCCTGCCCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

9-138678016-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678016
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678016
    reference: chr 9
allele count: 1
allele frequency: 1.342822613132805e-5
allele num: 74470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-27C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-27C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3836C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-27C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-27C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-27C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-27C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-27C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-27C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-27C>G
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

9-138678016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678016
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678016
    reference: chr 9
allele count: 7
allele frequency: 9.399758291929636e-5
allele num: 74470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-27C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-27C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-27C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3836C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-27C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-27C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-27C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-27C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-27C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-27C>T
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

9-138678016-CGCCCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678016
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678011
    reference: chr 9
allele count: 21717
allele frequency: 2.916207868940513e-1
allele num: 74470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-7_3100-3delTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-7_3049-3delTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3856_3860delTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-7_3178-3delTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-7_3115-3delTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-7_*2788-3delTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-7_3178-3delTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-7_3112-3delTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-7_3043-3delTGCCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-7_3073-3delTGCCC
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 788
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.5e0
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 465
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.75e1
  variant carriers: 1943
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 7.5e0
  variant carriers: 3140
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 1.25e1
  variant carriers: 5357
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 2.25e1
  variant carriers: 2914
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 277
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 1217
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 1.75e1
  variant carriers: 4247
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 393
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 316
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 275
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 160
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 2.75e1
  variant carriers: 407
num of homozygotes: 2719
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: CGCCCT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

9-138678016-CGCCCTGCCCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678016
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678006
    reference: chr 9
allele count: 21
allele frequency: 2.819927487578891e-4
allele num: 74470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18754
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 10259
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: CGCCCTGCCCT
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-138678017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678017
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678017
    reference: chr 9
allele count: 1
allele frequency: 2.775618963028755e-5
allele num: 36028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3837G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-26G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-26G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-26G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-26G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-26G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-26G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-26G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-26G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-26G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4416
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

9-138678018-C-CAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678018
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678020
    reference: chr 9
allele count: 1
allele frequency: 2.631994525451387e-5
allele num: 37994
alternate allele: CAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3838_3839insAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-25_3178-24insAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-25_3049-24insAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-25_3112-24insAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-25_3043-24insAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-25_3115-24insAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-25_3073-24insAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-25_*2788-24insAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-25_3178-24insAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-25_3100-24insAG
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9291
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

9-138678021-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678021
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678021
    reference: chr 9
allele count: 1
allele frequency: 2.550369803621525e-5
allele num: 39210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-22T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3841T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-22T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-22T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-22T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-22T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-22T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-22T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-22T>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-22T>G
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

9-138678021-T-TCACCCCTCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678021
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678032
    reference: chr 9
allele count: 1
allele frequency: 2.550369803621525e-5
allele num: 39210
alternate allele: TCACCCCTCCCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11156
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

9-138678022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678022
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678022
    reference: chr 9
allele count: 4
allele frequency: 9.870693909781858e-5
allele num: 40524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-21G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-21G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3842G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-21G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-21G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-21G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-21G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-21G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-21G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-21G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

9-138678023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678023
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678023
    reference: chr 9
allele count: 1
allele frequency: 1.187197264697502e-5
allele num: 84232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-20C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-20C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-20C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-20C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-20C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-20C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-20C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-20C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3843C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-20C>T
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

9-138678027-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678027
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678027
    reference: chr 9
allele count: 8
allele frequency: 9.241076585422202e-5
allele num: 86570
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-16G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-16G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-16G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-16G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-16G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-16G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-16G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-16G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-16G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3847G>T
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-138678027-GCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678027
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678025
    reference: chr 9
allele count: 1
allele frequency: 1.155134573177775e-5
allele num: 86570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-14_3178-13delCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-14_3043-13delCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3849_3850delCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-14_3073-13delCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-14_3115-13delCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-14_*2788-13delCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-14_3178-13delCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-14_3112-13delCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-14_3049-13delCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-14_3100-13delCC
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 10618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: GCC
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-138678028-C-CCCTGCCCTGCCCAGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678028
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678043
    reference: chr 9
allele count: 2
allele frequency: 2.294999196750281e-5
allele num: 87146
alternate allele: CCCTGCCCTGCCCAGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14340
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

9-138678031-TGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678031
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678028
    reference: chr 9
allele count: 1
allele frequency: 1.125416404069506e-5
allele num: 88856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-11_3115-9delGCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-11_3049-9delGCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3852_3854delGCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-11_3178-9delGCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-11_3073-9delGCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-11_3100-9delGCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-11_3112-9delGCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-11_3043-9delGCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-11_3178-9delGCC
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-11_*2788-9delGCC
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25218
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: TGCC
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

9-138678031-T-TGCCCTGCCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678031
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678041
    reference: chr 9
allele count: 1
allele frequency: 1.125416404069506e-5
allele num: 88856
alternate allele: TGCCCTGCCCA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsp: ENSP00000419086.2:p.Ser1025ProfsTer14
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsp: ENSP00000298480.5:p.Ser1060ProfsTer14
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsp: ENSP00000360822.2:p.Ser1060ProfsTer14
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsp: ENSP00000417578.2:p.Ser1017ProfsTer14
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsp: ENSP00000417851.1:p.Ser1015ProfsTer14
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsp: ENSP00000263604.3:p.Ser1034ProfsTer14
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsp: ENSP00000419007.2:p.Ser1039ProfsTer14
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsp: ENSP00000418003.2:p.Ser1038ProfsTer14
  variant of: http://identifiers.org/hgnc/18865
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 11196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

9-138678036-TGCCCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678036
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678031
    reference: chr 9
allele count: 1
allele frequency: 1.139705044334526e-5
allele num: 87742
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-5_3178-1delCCCAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-5_*2788-1delCCCAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-5_3043-1delCCCAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-5_3112-1delCCCAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-5_3100-1delCCCAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3858_3862delCCCAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-5_3178-1delCCCAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-5_3049-1delCCCAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-5_3115-1delCCCAG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-5_3073-1delCCCAG
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 2.5e0
  variant carriers: 1
hgvs: c.3178-5_3178-1delCCCAG
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: TGCCCA
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum

9-138678038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678038
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678038
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 90016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3049-5C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3115-5C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3858C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3073-5C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3100-5C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3178-5C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3112-5C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3178-5C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2788-5C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3043-5C>T
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
hgvs: c.3178-5C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

9-138678044-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678044
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678044
    reference: chr 9
allele count: 1
allele frequency: 1.04747140403067e-5
allele num: 95468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3113C>G
  hgvsp: ENSP00000418003.2:p.Ser1038Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3074C>G
  hgvsp: ENSP00000419086.2:p.Ser1025Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3101C>G
  hgvsp: ENSP00000263604.3:p.Ser1034Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3179C>G
  hgvsp: ENSP00000360822.2:p.Ser1060Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3044C>G
  hgvsp: ENSP00000417851.1:p.Ser1015Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3050C>G
  hgvsp: ENSP00000417578.2:p.Ser1017Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2789C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3179C>G
  hgvsp: ENSP00000298480.5:p.Ser1060Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3116C>G
  hgvsp: ENSP00000419007.2:p.Ser1039Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3864C>G
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1060Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

9-138678054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678054
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678054
    reference: chr 9
allele count: 3
allele frequency: 3.024254521260509e-5
allele num: 99198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3189G>A
  hgvsp: ENST00000371757.2:c.3189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3123G>A
  hgvsp: ENST00000490355.2:c.3123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3060G>A
  hgvsp: ENST00000486577.2:c.3060G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3111G>A
  hgvsp: ENST00000263604.3:c.3111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3054G>A
  hgvsp: ENST00000487664.1:c.3054G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3189G>A
  hgvsp: ENST00000298480.5:c.3189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3874G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3126G>A
  hgvsp: ENST00000488444.2:c.3126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2799G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3084G>A
  hgvsp: ENST00000491806.2:c.3084G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26833
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser1063Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

9-138678060-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678060
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678060
    reference: chr 9
allele count: 1
allele frequency: 9.925952395132313e-6
allele num: 100746
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3195C>G
  hgvsp: ENSP00000360822.2:p.Asn1065Lys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2805C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3880C>G
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3129C>G
  hgvsp: ENSP00000418003.2:p.Asn1043Lys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3060C>G
  hgvsp: ENSP00000417851.1:p.Asn1020Lys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3066C>G
  hgvsp: ENSP00000417578.2:p.Asn1022Lys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3132C>G
  hgvsp: ENSP00000419007.2:p.Asn1044Lys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3195C>G
  hgvsp: ENSP00000298480.5:p.Asn1065Lys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3117C>G
  hgvsp: ENSP00000263604.3:p.Asn1039Lys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3090C>G
  hgvsp: ENSP00000419086.2:p.Asn1030Lys
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn1065Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-138678061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678061
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678061
    reference: chr 9
allele count: 3
allele frequency: 2.967593874886242e-5
allele num: 101092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3196G>A
  hgvsp: ENSP00000298480.5:p.Val1066Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2806G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3130G>A
  hgvsp: ENSP00000418003.2:p.Val1044Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3118G>A
  hgvsp: ENSP00000263604.3:p.Val1040Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3196G>A
  hgvsp: ENSP00000360822.2:p.Val1066Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3091G>A
  hgvsp: ENSP00000419086.2:p.Val1031Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3133G>A
  hgvsp: ENSP00000419007.2:p.Val1045Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3061G>A
  hgvsp: ENSP00000417851.1:p.Val1021Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3067G>A
  hgvsp: ENSP00000417578.2:p.Val1023Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3881G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1066Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

9-138678070-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678070
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678070
    reference: chr 9
allele count: 1
allele frequency: 9.767341915571097e-6
allele num: 102382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3139T>A
  hgvsp: ENSP00000418003.2:p.Cys1047Ser
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3070T>A
  hgvsp: ENSP00000417851.1:p.Cys1024Ser
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3890T>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3076T>A
  hgvsp: ENSP00000417578.2:p.Cys1026Ser
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2815T>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3205T>A
  hgvsp: ENSP00000360822.2:p.Cys1069Ser
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3142T>A
  hgvsp: ENSP00000419007.2:p.Cys1048Ser
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3205T>A
  hgvsp: ENSP00000298480.5:p.Cys1069Ser
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3100T>A
  hgvsp: ENSP00000419086.2:p.Cys1034Ser
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3127T>A
  hgvsp: ENSP00000263604.3:p.Cys1043Ser
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys1069Ser
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: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

9-138678071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678071
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678071
    reference: chr 9
allele count: 3
allele frequency: 2.925915811649046e-5
allele num: 102532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3891G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2816G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3143G>A
  hgvsp: ENSP00000419007.2:p.Cys1048Tyr
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3128G>A
  hgvsp: ENSP00000263604.3:p.Cys1043Tyr
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3206G>A
  hgvsp: ENSP00000298480.5:p.Cys1069Tyr
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3140G>A
  hgvsp: ENSP00000418003.2:p.Cys1047Tyr
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3206G>A
  hgvsp: ENSP00000360822.2:p.Cys1069Tyr
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3071G>A
  hgvsp: ENSP00000417851.1:p.Cys1024Tyr
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3077G>A
  hgvsp: ENSP00000417578.2:p.Cys1026Tyr
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3101G>A
  hgvsp: ENSP00000419086.2:p.Cys1034Tyr
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys1069Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-138678082-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678082
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678082
    reference: chr 9
allele count: 2
allele frequency: 1.949431740647601e-5
allele num: 102594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3112C>A
  hgvsp: ENST00000491806.2:c.3112C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2827C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3082C>A
  hgvsp: ENST00000487664.1:c.3082C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3217C>A
  hgvsp: ENST00000371757.2:c.3217C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3154C>A
  hgvsp: ENST00000488444.2:c.3154C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3139C>A
  hgvsp: ENST00000263604.3:c.3139C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3151C>A
  hgvsp: ENST00000490355.2:c.3151C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3088C>A
  hgvsp: ENST00000486577.2:c.3088C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3902C>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3217C>A
  hgvsp: ENST00000298480.5:c.3217C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1073Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

9-138678082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678082
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678082
    reference: chr 9
allele count: 2
allele frequency: 1.949431740647601e-5
allele num: 102594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3902C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3154C>T
  hgvsp: ENSP00000419007.2:p.Arg1052Trp
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3151C>T
  hgvsp: ENSP00000418003.2:p.Arg1051Trp
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3139C>T
  hgvsp: ENSP00000263604.3:p.Arg1047Trp
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2827C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3217C>T
  hgvsp: ENSP00000360822.2:p.Arg1073Trp
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3112C>T
  hgvsp: ENSP00000419086.2:p.Arg1038Trp
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3082C>T
  hgvsp: ENSP00000417851.1:p.Arg1028Trp
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3088C>T
  hgvsp: ENSP00000417578.2:p.Arg1030Trp
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3217C>T
  hgvsp: ENSP00000298480.5:p.Arg1073Trp
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15600
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28189
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1073Trp
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

9-138678083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678083
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678083
    reference: chr 9
allele count: 3
allele frequency: 2.937605264188633e-5
allele num: 102124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3218G>A
  hgvsp: ENSP00000298480.5:p.Arg1073Gln
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3152G>A
  hgvsp: ENSP00000418003.2:p.Arg1051Gln
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3903G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3155G>A
  hgvsp: ENSP00000419007.2:p.Arg1052Gln
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3218G>A
  hgvsp: ENSP00000360822.2:p.Arg1073Gln
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3140G>A
  hgvsp: ENSP00000263604.3:p.Arg1047Gln
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3089G>A
  hgvsp: ENSP00000417578.2:p.Arg1030Gln
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3113G>A
  hgvsp: ENSP00000419086.2:p.Arg1038Gln
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3083G>A
  hgvsp: ENSP00000417851.1:p.Arg1028Gln
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2828G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1073Gln
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

9-138678088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678088
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678088
    reference: chr 9
allele count: 1
allele frequency: 9.796046315706981e-6
allele num: 102082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3223G>A
  hgvsp: ENSP00000298480.5:p.Val1075Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3223G>A
  hgvsp: ENSP00000360822.2:p.Val1075Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3094G>A
  hgvsp: ENSP00000417578.2:p.Val1032Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3908G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3145G>A
  hgvsp: ENSP00000263604.3:p.Val1049Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3160G>A
  hgvsp: ENSP00000419007.2:p.Val1054Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3118G>A
  hgvsp: ENSP00000419086.2:p.Val1040Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2833G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3157G>A
  hgvsp: ENSP00000418003.2:p.Val1053Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3088G>A
  hgvsp: ENSP00000417851.1:p.Val1030Met
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1075Met
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

9-138678096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678096
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678096
    reference: chr 9
allele count: 1
allele frequency: 9.958572339069471e-6
allele num: 100416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3126G>A
  hgvsp: ENST00000491806.2:c.3126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3153G>A
  hgvsp: ENST00000263604.3:c.3153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3916G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3096G>A
  hgvsp: ENST00000487664.1:c.3096G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3165G>A
  hgvsp: ENST00000490355.2:c.3165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3168G>A
  hgvsp: ENST00000488444.2:c.3168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3102G>A
  hgvsp: ENST00000486577.2:c.3102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3231G>A
  hgvsp: ENST00000371757.2:c.3231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3231G>A
  hgvsp: ENST00000298480.5:c.3231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2841G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24947
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly1077Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

9-138678104-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678104
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678104
    reference: chr 9
allele count: 212
allele frequency: 2.183900941549746e-3
allele num: 97074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3176G>T
  hgvsp: ENSP00000419007.2:p.Gly1059Val
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3239G>T
  hgvsp: ENSP00000298480.5:p.Gly1080Val
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3924G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3161G>T
  hgvsp: ENSP00000263604.3:p.Gly1054Val
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3239G>T
  hgvsp: ENSP00000360822.2:p.Gly1080Val
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3110G>T
  hgvsp: ENSP00000417578.2:p.Gly1037Val
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2849G>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3134G>T
  hgvsp: ENSP00000419086.2:p.Gly1045Val
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3173G>T
  hgvsp: ENSP00000418003.2:p.Gly1058Val
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3104G>T
  hgvsp: ENSP00000417851.1:p.Gly1035Val
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 21530
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15217
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1080Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

9-138678105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678105
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678105
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 97046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3111C>T
  hgvsp: ENST00000486577.2:c.3111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2850C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3240C>T
  hgvsp: ENST00000371757.2:c.3240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3105C>T
  hgvsp: ENST00000487664.1:c.3105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3925C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3162C>T
  hgvsp: ENST00000263604.3:c.3162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3174C>T
  hgvsp: ENST00000490355.2:c.3174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3240C>T
  hgvsp: ENST00000298480.5:c.3240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3177C>T
  hgvsp: ENST00000488444.2:c.3177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3135C>T
  hgvsp: ENST00000491806.2:c.3135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1080Gly
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

9-138678109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678109
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678109
    reference: chr 9
allele count: 4
allele frequency: 4.204065331175247e-5
allele num: 95146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3109C>T
  hgvsp: ENSP00000417851.1:p.Arg1037Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3181C>T
  hgvsp: ENSP00000419007.2:p.Arg1061Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3929C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3139C>T
  hgvsp: ENSP00000419086.2:p.Arg1047Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3178C>T
  hgvsp: ENSP00000418003.2:p.Arg1060Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3115C>T
  hgvsp: ENSP00000417578.2:p.Arg1039Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2854C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3244C>T
  hgvsp: ENSP00000298480.5:p.Arg1082Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3166C>T
  hgvsp: ENSP00000263604.3:p.Arg1056Cys
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3244C>T
  hgvsp: ENSP00000360822.2:p.Arg1082Cys
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1082Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

9-138678110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678110
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678110
    reference: chr 9
allele count: 4
allele frequency: 4.203976962206247e-5
allele num: 95148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3116G>A
  hgvsp: ENSP00000417578.2:p.Arg1039His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3245G>A
  hgvsp: ENSP00000360822.2:p.Arg1082His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3182G>A
  hgvsp: ENSP00000419007.2:p.Arg1061His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3245G>A
  hgvsp: ENSP00000298480.5:p.Arg1082His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3167G>A
  hgvsp: ENSP00000263604.3:p.Arg1056His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3930G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3179G>A
  hgvsp: ENSP00000418003.2:p.Arg1060His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3140G>A
  hgvsp: ENSP00000419086.2:p.Arg1047His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3110G>A
  hgvsp: ENSP00000417851.1:p.Arg1037His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2855G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1082His
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

9-138678111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678111
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678111
    reference: chr 9
allele count: 3
allele frequency: 3.19693094629156e-5
allele num: 93840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2856C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3168C>T
  hgvsp: ENST00000263604.3:c.3168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3246C>T
  hgvsp: ENST00000298480.5:c.3246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3246C>T
  hgvsp: ENST00000371757.2:c.3246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3111C>T
  hgvsp: ENST00000487664.1:c.3111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3183C>T
  hgvsp: ENST00000488444.2:c.3183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3141C>T
  hgvsp: ENST00000491806.2:c.3141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3117C>T
  hgvsp: ENST00000486577.2:c.3117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3180C>T
  hgvsp: ENST00000490355.2:c.3180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3931C>T
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1082Arg
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-138678120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678120
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678120
    reference: chr 9
allele count: 1
allele frequency: 1.12843891760139e-5
allele num: 88618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3150C>T
  hgvsp: ENST00000491806.2:c.3150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3940C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3177C>T
  hgvsp: ENST00000263604.3:c.3177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3120C>T
  hgvsp: ENST00000487664.1:c.3120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3192C>T
  hgvsp: ENST00000488444.2:c.3192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2865C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3126C>T
  hgvsp: ENST00000486577.2:c.3126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3189C>T
  hgvsp: ENST00000490355.2:c.3189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3255C>T
  hgvsp: ENST00000371757.2:c.3255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3255C>T
  hgvsp: ENST00000298480.5:c.3255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr1085Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

9-138678121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678121
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678121
    reference: chr 9
allele count: 28
allele frequency: 3.181745869412059e-4
allele num: 88002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3256G>A
  hgvsp: ENSP00000298480.5:p.Gly1086Arg
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3256G>A
  hgvsp: ENSP00000360822.2:p.Gly1086Arg
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3190G>A
  hgvsp: ENSP00000418003.2:p.Gly1064Arg
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3178G>A
  hgvsp: ENSP00000263604.3:p.Gly1060Arg
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3193G>A
  hgvsp: ENSP00000419007.2:p.Gly1065Arg
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3121G>A
  hgvsp: ENSP00000417851.1:p.Gly1041Arg
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3941G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3127G>A
  hgvsp: ENSP00000417578.2:p.Gly1043Arg
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3151G>A
  hgvsp: ENSP00000419086.2:p.Gly1051Arg
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2866G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8707
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13675
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15889
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27698
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1086Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

9-138678123-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678123
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678122
    reference: chr 9
allele count: 1
allele frequency: 1.150986395340807e-5
allele num: 86882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3155delG
  hgvsp: ENSP00000419086.2:p.Gly1052AlafsTer30
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3182delG
  hgvsp: ENSP00000263604.3:p.Gly1061AlafsTer30
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3131delG
  hgvsp: ENSP00000417578.2:p.Gly1044AlafsTer30
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3945delG
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3125delG
  hgvsp: ENSP00000417851.1:p.Gly1042AlafsTer30
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3194delG
  hgvsp: ENSP00000418003.2:p.Gly1065AlafsTer30
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3260delG
  hgvsp: ENSP00000360822.2:p.Gly1087AlafsTer30
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3197delG
  hgvsp: ENSP00000419007.2:p.Gly1066AlafsTer30
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3260delG
  hgvsp: ENSP00000298480.5:p.Gly1087AlafsTer30
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2870delG
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly1087AlafsTer30
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: AG
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

9-138678129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678129
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678129
    reference: chr 9
allele count: 1
allele frequency: 1.255303657954859e-5
allele num: 79662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2874C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3264C>T
  hgvsp: ENST00000371757.2:c.3264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3201C>T
  hgvsp: ENST00000488444.2:c.3201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3186C>T
  hgvsp: ENST00000263604.3:c.3186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3264C>T
  hgvsp: ENST00000298480.5:c.3264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3129C>T
  hgvsp: ENST00000487664.1:c.3129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3198C>T
  hgvsp: ENST00000490355.2:c.3198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3159C>T
  hgvsp: ENST00000491806.2:c.3159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3949C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3135C>T
  hgvsp: ENST00000486577.2:c.3135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1088Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

9-138678133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678133
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678133
    reference: chr 9
allele count: 1
allele frequency: 1.2853470437018e-5
allele num: 77800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3190C>T
  hgvsp: ENSP00000263604.3:p.Gln1064Ter
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3139C>T
  hgvsp: ENSP00000417578.2:p.Gln1047Ter
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2878C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3163C>T
  hgvsp: ENSP00000419086.2:p.Gln1055Ter
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3133C>T
  hgvsp: ENSP00000417851.1:p.Gln1045Ter
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3202C>T
  hgvsp: ENSP00000418003.2:p.Gln1068Ter
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3205C>T
  hgvsp: ENSP00000419007.2:p.Gln1069Ter
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3953C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3268C>T
  hgvsp: ENSP00000298480.5:p.Gln1090Ter
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3268C>T
  hgvsp: ENSP00000360822.2:p.Gln1090Ter
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11363
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln1090Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

9-138678138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678138
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678138
    reference: chr 9
allele count: 1
allele frequency: 1.321387985940432e-5
allele num: 75678
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3273C>T
  hgvsp: ENST00000371757.2:c.3273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2883C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3138C>T
  hgvsp: ENST00000487664.1:c.3138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3210C>T
  hgvsp: ENST00000488444.2:c.3210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3144C>T
  hgvsp: ENST00000486577.2:c.3144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3273C>T
  hgvsp: ENST00000298480.5:c.3273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3207C>T
  hgvsp: ENST00000490355.2:c.3207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3958C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3168C>T
  hgvsp: ENST00000491806.2:c.3168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3195C>T
  hgvsp: ENST00000263604.3:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly1091Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

9-138678140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678140
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678140
    reference: chr 9
allele count: 11
allele frequency: 1.514525678094451e-4
allele num: 72630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3146G>A
  hgvsp: ENSP00000417578.2:p.Arg1049His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2885G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3197G>A
  hgvsp: ENSP00000263604.3:p.Arg1066His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3140G>A
  hgvsp: ENSP00000417851.1:p.Arg1047His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3212G>A
  hgvsp: ENSP00000419007.2:p.Arg1071His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3275G>A
  hgvsp: ENSP00000360822.2:p.Arg1092His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3209G>A
  hgvsp: ENSP00000418003.2:p.Arg1070His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3275G>A
  hgvsp: ENSP00000298480.5:p.Arg1092His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3170G>A
  hgvsp: ENSP00000419086.2:p.Arg1057His
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3960G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12037
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9657
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1092His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

9-138678146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678146
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678146
    reference: chr 9
allele count: 3
allele frequency: 4.315553253927153e-5
allele num: 69516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3966C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3218C>T
  hgvsp: ENSP00000419007.2:p.Thr1073Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3215C>T
  hgvsp: ENSP00000418003.2:p.Thr1072Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2891C>T
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3203C>T
  hgvsp: ENSP00000263604.3:p.Thr1068Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3281C>T
  hgvsp: ENSP00000298480.5:p.Thr1094Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3152C>T
  hgvsp: ENSP00000417578.2:p.Thr1051Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3281C>T
  hgvsp: ENSP00000360822.2:p.Thr1094Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3146C>T
  hgvsp: ENSP00000417851.1:p.Thr1049Met
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3176C>T
  hgvsp: ENSP00000419086.2:p.Thr1059Met
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16697
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr1094Met
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

9-138678147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138678147
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138678147
    reference: chr 9
allele count: 3
allele frequency: 4.381736920515292e-5
allele num: 68466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419086
  ensembl transcript: ENST00000491806
  gene symbol: KCNT1
  hgvsc: ENST00000491806.2:c.3177G>A
  hgvsp: ENST00000491806.2:c.3177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000298480
  ensembl transcript: ENST00000298480
  gene symbol: KCNT1
  hgvsc: ENST00000298480.5:c.3282G>A
  hgvsp: ENST00000298480.5:c.3282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000419007
  ensembl transcript: ENST00000488444
  gene symbol: KCNT1
  hgvsc: ENST00000488444.2:c.3219G>A
  hgvsp: ENST00000488444.2:c.3219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418003
  ensembl transcript: ENST00000490355
  gene symbol: KCNT1
  hgvsc: ENST00000490355.2:c.3216G>A
  hgvsp: ENST00000490355.2:c.3216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417578
  ensembl transcript: ENST00000486577
  gene symbol: KCNT1
  hgvsc: ENST00000486577.2:c.3153G>A
  hgvsp: ENST00000486577.2:c.3153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000360822
  ensembl transcript: ENST00000371757
  gene symbol: KCNT1
  hgvsc: ENST00000371757.2:c.3282G>A
  hgvsp: ENST00000371757.2:c.3282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000417851
  ensembl transcript: ENST00000487664
  gene symbol: KCNT1
  hgvsc: ENST00000487664.1:c.3147G>A
  hgvsp: ENST00000487664.1:c.3147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000263604
  ensembl transcript: ENST00000263604
  gene symbol: KCNT1
  hgvsc: ENST00000263604.3:c.3204G>A
  hgvsp: ENST00000263604.3:c.3204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000107147
  ensembl protein: ENSP00000418777
  ensembl transcript: ENST00000460750
  gene symbol: KCNT1
  hgvsc: ENST00000460750.1:c.*2892G>A
  variant of: http://identifiers.org/hgnc/18865
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000107147
  ensembl transcript: ENST00000490363
  gene symbol: KCNT1
  hgvsc: ENST00000490363.1:n.3967G>A
  variant of: http://identifiers.org/hgnc/18865
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1094Thr
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1251
bin: 2.25e1
variant carriers: 11

GenotypeQuality
all individuals: 5410
bin: 7.5e0
variant carriers: 6

GenotypeQuality
all individuals: 2105
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 13
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 262
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 289
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 250
bin: 5.25e1
variant carriers: 11

GenotypeQuality
all individuals: 253
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1815
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 448
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 327
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 340
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 41
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 103
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 241
bin: 9.75e1
variant carriers: 216

Latino
type: Population
allele count: 7
allele frequency: 3.125e-2
allele num: 224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 4.452054794520548e-2
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 205
allele frequency: 3.343118069145466e-2
allele num: 6132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 111
allele frequency: 3.291814946619217e-2
allele num: 3372
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.045296167247387e-2
allele num: 574
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 3.703703703703703e-2
allele num: 108
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.82e1

DP
type: SiteQuality
SIO_000300: 2.02769e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.309999999999999e-2

QD
type: SiteQuality
SIO_000300: 3.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.138e0

FS
type: SiteQuality
SIO_000300: 2.84534e2

VQSLOD
type: SiteQuality
SIO_000300: -3.697e2

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeQuality
all individuals: 5457
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 254
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 9.75e1
variant carriers: 91

GenotypeQuality
all individuals: 225
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 154
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1276
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 207
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1549
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 36
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 3
allele frequency: 4.838709677419355e-3
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 1.075877689694224e-2
allele num: 3532
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 2.649006622516556e-2
allele num: 302
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.347826086956522e-3
allele num: 230
num of homozygotes: 0

South Asian
type: Population
allele count: 66
allele frequency: 9.76620301864457e-3
allele num: 6758
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.216e0

QD
type: SiteQuality
SIO_000300: 4.21e0

FS
type: SiteQuality
SIO_000300: 2.89498e2

MQ
type: SiteQuality
SIO_000300: 5.725e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: -3.853e2

DP
type: SiteQuality
SIO_000300: 1.92073e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.41e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.568e0

GenotypeQuality
all individuals: 260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3870
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.339405304045004e-4
allele num: 7466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

QD
type: SiteQuality
SIO_000300: 1.086e1

MQ
type: SiteQuality
SIO_000300: 5.752e1

DP
type: SiteQuality
SIO_000300: 1.86356e5

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.69e-1

GenotypeQuality
all individuals: 256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 907
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5631
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 178
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 901
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.683843263553408e-4
allele num: 7452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.651e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.187e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e0

DP
type: SiteQuality
SIO_000300: 1.86503e5

MQRankSum
type: SiteQuality
SIO_000300: -5.604e0

FS
type: SiteQuality
SIO_000300: 2.90007e2

QD
type: SiteQuality
SIO_000300: 2.28e0

VQSLOD
type: SiteQuality
SIO_000300: -8.754000000000001e1

GenotypeQuality
all individuals: 676
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5602
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 7.012622720897616e-4
allele num: 7130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.36986301369863e-3
allele num: 3650
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.424657534246575e-3
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.577287066246057e-3
allele num: 634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.39501e2

MQ
type: SiteQuality
SIO_000300: 5.668e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.613e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.711e0

VQSLOD
type: SiteQuality
SIO_000300: -2.698e2

MQRankSum
type: SiteQuality
SIO_000300: -3.657e0

QD
type: SiteQuality
SIO_000300: 4.63e0

DP
type: SiteQuality
SIO_000300: 1.84632e5

GenotypeQuality
all individuals: 1338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5680
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.385964912280702e-3
allele num: 228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

DP
type: SiteQuality
SIO_000300: 1.79814e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.03e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

QD
type: SiteQuality
SIO_000300: 1.329e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5680
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.03e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.329e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

DP
type: SiteQuality
SIO_000300: 1.79814e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.216e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.54903e5

VQSLOD
type: SiteQuality
SIO_000300: -4.215e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.43e-2

MQ
type: SiteQuality
SIO_000300: 2.9e1

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.721435316336166e-4
allele num: 6354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.139e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.748e1

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.807e-1

DP
type: SiteQuality
SIO_000300: 1.38358e5

QD
type: SiteQuality
SIO_000300: 1.077e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

GenotypeQuality
all individuals: 359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
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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
all individuals: 124
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GenotypeQuality
all individuals: 6
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variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 5.597014925373134e-3
allele num: 536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.450655624568668e-4
allele num: 2898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.095e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.27513e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.31e-2

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

GenotypeQuality
all individuals: 58
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variant carriers: 1

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 103
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variant carriers: 5

GenotypeQuality
all individuals: 16
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variant carriers: 1

South Asian
type: Population
allele count: 88
allele frequency: 1.47551978537894e-2
allele num: 5964
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 120
allele frequency: 4.11240575736806e-2
allele num: 2918
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.575757575757576e-3
allele num: 528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.923076923076923e-2
allele num: 104
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

DP
type: SiteQuality
SIO_000300: 1.26665e5

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 2.068e0

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 592
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
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GenotypeQuality
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GenotypeQuality
all individuals: 1165
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variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.100840336134454e-3
allele num: 476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.777e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.48e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.142e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.232e0

DP
type: SiteQuality
SIO_000300: 1.06964e5

GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 4159
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GenotypeQuality
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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: 95
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GenotypeQuality
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GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.424830261881668e-4
allele num: 4124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 1.886792452830189e-2
allele num: 424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.303e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.067e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.022e1

DP
type: SiteQuality
SIO_000300: 8.9253e4

GenotypeQuality
all individuals: 3824
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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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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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.143322475570033e-4
allele num: 1228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1802
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.88e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 2.058e0

QD
type: SiteQuality
SIO_000300: 2.54e0

VQSLOD
type: SiteQuality
SIO_000300: -1.038e0

DP
type: SiteQuality
SIO_000300: 6.4539e4

GenotypeQuality
all individuals: 213
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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
all individuals: 8
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 6
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.70261066969353e-3
allele num: 1762
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.99e-2

MQ
type: SiteQuality
SIO_000300: 5.465e1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

DP
type: SiteQuality
SIO_000300: 6.3919e4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 6015
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GenotypeQuality
all individuals: 193
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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South Asian
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East Asian
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MQ
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FS
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InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Finnish)
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African
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Latino
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South Asian
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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South Asian
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European (Finnish)
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Other
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VQSLOD
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MQ
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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East Asian
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MQ
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FS
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QD
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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African
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Latino
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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African
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Other
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InbreedingCoeff
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DP
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ClippingRankSum
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VQSLOD
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MQ
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QD
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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QD
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MQ
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European (Finnish)
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East Asian
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African
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.216312056737589e-4
allele num: 4512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.71e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.152e0

DP
type: SiteQuality
SIO_000300: 8.6201e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.18e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

GenotypeQuality
all individuals: 16347
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38202
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.061e1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 8.83471e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.281e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.089e1

GenotypeQuality
all individuals: 3396
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 8739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 5

GenotypeQuality
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bin: 6.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 4

GenotypeQuality
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bin: 8.25e1
variant carriers: 3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 734
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 18754
bin: 9.75e1
variant carriers: 458

South Asian
type: Population
allele count: 33
allele frequency: 2.746795405360413e-3
allele num: 12014
num of homozygotes: 1

African
type: Population
allele count: 15
allele frequency: 2.89463527595523e-3
allele num: 5182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 256
allele frequency: 5.955427348439027e-3
allele num: 42986
num of homozygotes: 0

East Asian
type: Population
allele count: 39
allele frequency: 7.150715071507151e-3
allele num: 5454
num of homozygotes: 0

Latino
type: Population
allele count: 41
allele frequency: 7.215769095388948e-3
allele num: 5682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.864280387770321e-3
allele num: 2682
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

MQ
type: SiteQuality
SIO_000300: 5.432e1

MQRankSum
type: SiteQuality
SIO_000300: -1.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

FS
type: SiteQuality
SIO_000300: 8.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.513e-1

DP
type: SiteQuality
SIO_000300: 1.008353e6

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 703
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variant carriers: 0

GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
all individuals: 18754
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 9.167583425009168e-4
allele num: 5454
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 9.15598468453471e-4
allele num: 12014
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.759943681802182e-4
allele num: 5682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.954775973572791e-4
allele num: 42986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.92975685063682e-4
allele num: 5182
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.008353e6

FS
type: SiteQuality
SIO_000300: 8.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.432e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.513e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
all individuals: 1216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10259
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
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variant carriers: 0

GenotypeQuality
all individuals: 253
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GenotypeQuality
all individuals: 703
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variant carriers: 0

GenotypeQuality
all individuals: 2547
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variant carriers: 0

GenotypeQuality
all individuals: 734
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variant carriers: 0

GenotypeQuality
all individuals: 935
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variant carriers: 0

GenotypeQuality
all individuals: 2477
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GenotypeQuality
all individuals: 1099
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variant carriers: 0

GenotypeQuality
all individuals: 511
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GenotypeQuality
all individuals: 293
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GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
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GenotypeQuality
all individuals: 18754
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.3236224404861e-5
allele num: 12014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42986
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.513e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

FS
type: SiteQuality
SIO_000300: 8.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.156e0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

MQ
type: SiteQuality
SIO_000300: 5.432e1

DP
type: SiteQuality
SIO_000300: 1.008353e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
all individuals: 703
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3849
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 734
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2547
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
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GenotypeQuality
all individuals: 935
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
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variant carriers: 0

GenotypeQuality
all individuals: 2477
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 18754
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 185
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variant carriers: 0

GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10259
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5182
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.127659574468085e-3
allele num: 470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.163169403991997e-4
allele num: 42986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.833516685001834e-4
allele num: 5454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.156e0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.513e-1

MQ
type: SiteQuality
SIO_000300: 5.432e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

FS
type: SiteQuality
SIO_000300: 8.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.259e1

DP
type: SiteQuality
SIO_000300: 1.008353e6

GenotypeQuality
all individuals: 935
bin: 1.75e1
variant carriers: 301

GenotypeQuality
all individuals: 1216
bin: 6.75e1
variant carriers: 135

GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 330

GenotypeQuality
all individuals: 703
bin: 4.75e1
variant carriers: 295

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 160

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 179

GenotypeQuality
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bin: 7.5e0
variant carriers: 76

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 145

GenotypeQuality
all individuals: 734
bin: 4.25e1
variant carriers: 290

GenotypeQuality
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bin: 3.75e1
variant carriers: 400

GenotypeQuality
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bin: 3.25e1
variant carriers: 322

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 177

GenotypeQuality
all individuals: 8739
bin: 6.25e1
variant carriers: 159

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 154

GenotypeQuality
all individuals: 18754
bin: 9.75e1
variant carriers: 18276

GenotypeQuality
all individuals: 10259
bin: 2.25e1
variant carriers: 356

Other
type: Population
allele count: 132
allele frequency: 2.808510638297873e-1
allele num: 470
num of homozygotes: 19

Latino
type: Population
allele count: 1578
allele frequency: 2.777191129883844e-1
allele num: 5682
num of homozygotes: 142

European (Non-Finnish)
type: Population
allele count: 11678
allele frequency: 2.716698459963709e-1
allele num: 42986
num of homozygotes: 1264

South Asian
type: Population
allele count: 3599
allele frequency: 2.995671716330947e-1
allele num: 12014
num of homozygotes: 520

East Asian
type: Population
allele count: 1660
allele frequency: 3.043637697103044e-1
allele num: 5454
num of homozygotes: 180

European (Finnish)
type: Population
allele count: 540
allele frequency: 2.013422818791946e-1
allele num: 2682
num of homozygotes: 36

African
type: Population
allele count: 2530
allele frequency: 4.882284832111154e-1
allele num: 5182
num of homozygotes: 558

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.513e-1

FS
type: SiteQuality
SIO_000300: 8.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.432e1

DP
type: SiteQuality
SIO_000300: 1.008353e6

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

MQRankSum
type: SiteQuality
SIO_000300: -1.156e0

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
all individuals: 8739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3849
bin: 2.5e0
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GenotypeQuality
all individuals: 1216
bin: 6.75e1
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GenotypeQuality
all individuals: 2477
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GenotypeQuality
all individuals: 3396
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GenotypeQuality
all individuals: 2547
bin: 3.25e1
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GenotypeQuality
all individuals: 1637
bin: 3.75e1
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GenotypeQuality
all individuals: 511
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GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 703
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GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 734
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
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GenotypeQuality
all individuals: 342
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 1.736781165573138e-3
allele num: 5182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.558972688782394e-4
allele num: 42986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12014
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.127659574468085e-3
allele num: 470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.156e0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

MQ
type: SiteQuality
SIO_000300: 5.432e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.513e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

DP
type: SiteQuality
SIO_000300: 1.008353e6

FS
type: SiteQuality
SIO_000300: 8.46e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 637
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2954
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GenotypeQuality
all individuals: 472
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GenotypeQuality
all individuals: 8861
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GenotypeQuality
all individuals: 602
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GenotypeQuality
all individuals: 168
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GenotypeQuality
all individuals: 1268
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GenotypeQuality
all individuals: 7644
bin: 6.25e1
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GenotypeQuality
all individuals: 904
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 1479
bin: 1.75e1
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GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.585893790699807e-5
allele num: 21806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1200
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1652
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: 2816
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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FS
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QD
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MQRankSum
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BaseQRankSum
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SIO_000300: -7.31e-1

ClippingRankSum
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SIO_000300: -4.33e-1

ReadPosRankSum
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DP
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SIO_000300: 5.11301e5

MQ
type: SiteQuality
SIO_000300: 5.396e1

VQSLOD
type: SiteQuality
SIO_000300: -9.95e-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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2598
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3110
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22978
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1788
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.668335001668335e-4
allele num: 5994
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.14223e5

VQSLOD
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SIO_000300: 9.06e-1

InbreedingCoeff
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QD
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MQRankSum
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MQ
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SIO_000300: 5.481e1

FS
type: SiteQuality
SIO_000300: 6.286e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 23640
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1890
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1334
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.012048192771085e-4
allele num: 3320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.668e1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

ReadPosRankSum
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SIO_000300: 7.46e-1

BaseQRankSum
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FS
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SIO_000300: 5.414e0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

InbreedingCoeff
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SIO_000300: 4.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

QD
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DP
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 1.649620587264929e-4
allele num: 6062
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1890
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23640
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1334
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3320
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.414e0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.668e1

QD
type: SiteQuality
SIO_000300: 3.35e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1984
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 frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 1.635858007524947e-4
allele num: 24452
num of homozygotes: 0

Latino
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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
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.028e-1

FS
type: SiteQuality
SIO_000300: 3.248e0

ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.21e1

DP
type: SiteQuality
SIO_000300: 1.124028e6

VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele num: 12816
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Finnish)
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African
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.618057521944905e-4
allele num: 49442
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MQ
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 49442
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Latino
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Other
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DP
type: SiteQuality
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FS
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.295001295001295e-4
allele num: 7722
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.009565531931996e-5
allele num: 49762
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 568
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -5.3e-3

ClippingRankSum
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QD
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.041899e6

MQ
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SIO_000300: 4.985e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.974255705598989e-5
allele num: 50652
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 13118
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 586
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African
type: Population
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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

MQ
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SIO_000300: 5.543e1

BaseQRankSum
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DP
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SIO_000300: 1.06703e6

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

South Asian
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allele frequency: 7.623113279463333e-5
allele num: 13118
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50652
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.543e1

FS
type: SiteQuality
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DP
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SIO_000300: 1.06703e6

BaseQRankSum
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SIO_000300: -4.53e-1

ClippingRankSum
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SIO_000300: 1.29e-1

InbreedingCoeff
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SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.35e-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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variant carriers: 1

Latino
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allele count: 1
allele frequency: 1.205400192864031e-4
allele num: 8296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13000
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50012
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.734e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

DP
type: SiteQuality
SIO_000300: 1.12727e6

QD
type: SiteQuality
SIO_000300: 5.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.32e-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: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13228
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3846
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51144
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.141354e6

BaseQRankSum
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SIO_000300: -1.957e0

ReadPosRankSum
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VQSLOD
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MQ
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QD
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MQRankSum
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SIO_000300: 2.48e-1

ClippingRankSum
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SIO_000300: 2.48e-1

FS
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InbreedingCoeff
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SIO_000300: -1.1e-2

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
allele num: 660
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13738
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.858666964053381e-5
allele num: 53802
num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.19e0

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

Latino
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allele num: 10074
num of homozygotes: 0

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

Other
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.071135624381275e-5
allele num: 14142
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.603603603603604e-5
allele num: 55500
num of homozygotes: 0

African
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BaseQRankSum
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SIO_000300: -5.15e-1

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

Latino
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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: 1.779612756264237e-5
allele num: 56192
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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East Asian
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South Asian
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QD
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 261
bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4930
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.092050209205021e-4
allele num: 14340
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56342
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 1.25578e6

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.594e-1

FS
type: SiteQuality
SIO_000300: 1.103e0

QD
type: SiteQuality
SIO_000300: 1.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.014e0

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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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.759138725679907e-5
allele num: 56846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10456
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

MQ
type: SiteQuality
SIO_000300: 6.062e1

FS
type: SiteQuality
SIO_000300: 5.138e0

VQSLOD
type: SiteQuality
SIO_000300: -2.972e-1

DP
type: SiteQuality
SIO_000300: 1.271889e6

QD
type: SiteQuality
SIO_000300: 1.196e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5144
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.293326435592343e-4
allele num: 7732
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.376273052573631e-4
allele num: 14532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10470
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

BaseQRankSum
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SIO_000300: -2.746e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.23e0

MQ
type: SiteQuality
SIO_000300: 5.75e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

DP
type: SiteQuality
SIO_000300: 1.273791e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.51926799225761e-5
allele num: 56830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

DP
type: SiteQuality
SIO_000300: 1.273061e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 2218
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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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variant carriers: 0

GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.51926799225761e-5
allele num: 56830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

DP
type: SiteQuality
SIO_000300: 1.273061e6

QD
type: SiteQuality
SIO_000300: 9.66e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10448
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.298026998961578e-4
allele num: 7704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.531073446327684e-5
allele num: 56640
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6984
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5068
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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MQ
type: SiteQuality
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.345e0

QD
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SIO_000300: 1.082e1

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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bin: 9.75e1
variant carriers: 1

South Asian
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allele count: 1
allele frequency: 6.865302759851709e-5
allele num: 14566
num of homozygotes: 0

Latino
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
allele num: 726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.417e0

FS
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.801e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.72e-1

DP
type: SiteQuality
SIO_000300: 1.262002e6

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
all individuals: 230
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GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 80
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.46756677428823e-4
allele num: 6814
num of homozygotes: 0

East 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: 4882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14380
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

MQ
type: SiteQuality
SIO_000300: 5.712e1

FS
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

QD
type: SiteQuality
SIO_000300: 1.05e1

VQSLOD
type: SiteQuality
SIO_000300: -3.443e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.526e0

DP
type: SiteQuality
SIO_000300: 1.237465e6

GenotypeQuality
all individuals: 254
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 397
bin: 9.75e1
variant carriers: 212

GenotypeQuality
all individuals: 511
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3733
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 494
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33944
bin: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 183
allele frequency: 3.3785031200384e-3
allele num: 54166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.187226596675416e-4
allele num: 4572
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.483679525222552e-3
allele num: 674
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.615384615384615e-4
allele num: 6500
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 1.631205673758865e-3
allele num: 14100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.857e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

MQ
type: SiteQuality
SIO_000300: 5.727e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.158e0

DP
type: SiteQuality
SIO_000300: 1.194672e6

FS
type: SiteQuality
SIO_000300: 1.113e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.189e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

GenotypeQuality
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11781
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3742
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1065
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54172
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: -1.058e0

DP
type: SiteQuality
SIO_000300: 1.18782e6

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.68e-1

FS
type: SiteQuality
SIO_000300: 3.154e0

MQ
type: SiteQuality
SIO_000300: 5.701e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 276
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12769
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.408847562693716e-4
allele num: 7098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.644402634054563e-5
allele num: 53150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 6.33e0

DP
type: SiteQuality
SIO_000300: 1.164763e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 260
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33061
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12889
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.579778830963665e-4
allele num: 6330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.761802655832675e-5
allele num: 53166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.17772035601493e-5
allele num: 13932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

DP
type: SiteQuality
SIO_000300: 1.163417e6

QD
type: SiteQuality
SIO_000300: 1.118e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
all individuals: 718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13488
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3519
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13858
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.82780817508851e-4
allele num: 6214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52474
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.099e0

MQ
type: SiteQuality
SIO_000300: 5.595e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

DP
type: SiteQuality
SIO_000300: 1.145199e6

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 9.65e0

FS
type: SiteQuality
SIO_000300: 2.177e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

GenotypeQuality
all individuals: 1459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3085
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4421
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GenotypeQuality
all individuals: 27848
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variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15791
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.009000321440051e-5
allele num: 49776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13492
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.638e0

FS
type: SiteQuality
SIO_000300: 3.443e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

DP
type: SiteQuality
SIO_000300: 1.08334e6

QD
type: SiteQuality
SIO_000300: 2.302e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4527
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 378
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16125
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 206
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 63
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 4.262877442273535e-3
allele num: 5630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.635740643120717e-4
allele num: 3794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.066243377684313e-5
allele num: 49454
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.159e0

DP
type: SiteQuality
SIO_000300: 1.076845e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.736e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.976e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

GenotypeQuality
all individuals: 1559
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
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variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16723
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4676
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.545595054095827e-4
allele num: 6470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 2.026e1

DP
type: SiteQuality
SIO_000300: 1.058427e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.229e0

FS
type: SiteQuality
SIO_000300: 3.302e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeQuality
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4932
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.125e-4
allele num: 3200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.718e1

DP
type: SiteQuality
SIO_000300: 9.79578e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

FS
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.632e0

MQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.278e0

QD
type: SiteQuality
SIO_000300: 1.045e1

GenotypeQuality
all individuals: 438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 3.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4784
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.287073460799561e-5
allele num: 43724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12796
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

DP
type: SiteQuality
SIO_000300: 9.55973e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.803e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.385e0

QD
type: SiteQuality
SIO_000300: 3.134e1

GenotypeQuality
all individuals: 474
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5627
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
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GenotypeQuality
all individuals: 413
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variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
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variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.345765892563922e-5
allele num: 42630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.429e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

DP
type: SiteQuality
SIO_000300: 9.22294e5

FS
type: SiteQuality
SIO_000300: 5.617e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

QD
type: SiteQuality
SIO_000300: 1.773e1

GenotypeQuality
all individuals: 441
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 696
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21676
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5841
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variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
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variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
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variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16525
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 800
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 503
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.33783387144115e-5
allele num: 40884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12268
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.866368047779022e-4
allele num: 5358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.103404791929382e-3
allele num: 6344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2858
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 6.136e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 8.92181e5

QD
type: SiteQuality
SIO_000300: 1.104e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

GenotypeQuality
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15065
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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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variant carriers: 3

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: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 857
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variant carriers: 0

GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 385
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GenotypeQuality
all individuals: 1221
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 4.670714619336758e-4
allele num: 4282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.55924655781338e-5
allele num: 39074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12032
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.52e-1

DP
type: SiteQuality
SIO_000300: 8.55632e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.02e-1

QD
type: SiteQuality
SIO_000300: 1.679e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

FS
type: SiteQuality
SIO_000300: 2.746e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

GenotypeQuality
all individuals: 23009
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
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GenotypeQuality
all individuals: 626
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GenotypeQuality
all individuals: 704
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variant carriers: 0

GenotypeQuality
all individuals: 438
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GenotypeQuality
all individuals: 585
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variant carriers: 0