11-71944795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71944795
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71944795
    reference: chr 11
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.235+7G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.818+7G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2212+7G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1486+7G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1486+7G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.65+7G>A
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4003
  bin: 6.75e1
  variant carriers: 0
hgvs: c.2212+7G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-71944798-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71944798
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71944798
    reference: chr 11
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1486+10C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.65+10C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1486+10C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.818+10C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2212+10C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.235+10C>G
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

11-71944810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71944810
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71944810
    reference: chr 11
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1486+22G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2212+22G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1486+22G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.818+22G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.65+22G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.235+22G>A
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/11-71944828-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71944828
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71944828
    reference: chr 11
allele count: 4
allele frequency: 3.306714283352347e-5
allele num: 120966
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2212+40A>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.65+40A>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.235+40A>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.818+40A>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1486+40A>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1486+40A>C
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32162
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

11-71944831-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71944831
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71944831
    reference: chr 11
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.818+43T>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.235+43T>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2212+43T>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1486+43T>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1486+43T>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.65+43T>A
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

11-71944834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71944834
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71944834
    reference: chr 11
allele count: 2
allele frequency: 1.653958750268768e-5
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1486+46G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.65+46G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.235+46G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.818+46G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2212+46G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1486+46G>A
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32155
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

11-71945287-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945287
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945287
    reference: chr 11
allele count: 1
allele frequency: 8.424883736604435e-6
allele num: 118696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.819-38C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.236-38C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.66-38C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1487-38C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2213-38C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1487-38C>G
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

11-71945287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945287
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945287
    reference: chr 11
allele count: 3
allele frequency: 2.52746512098133e-5
allele num: 118696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1487-38C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.236-38C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2213-38C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.66-38C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1487-38C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.819-38C>T
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22008
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7642
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

11-71945291-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945291
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945291
    reference: chr 11
allele count: 5
allele frequency: 4.203376151725065e-5
allele num: 118952
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2213-34G>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.819-34G>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.66-34G>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1487-34G>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1487-34G>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.236-34G>C
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

11-71945294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945294
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945294
    reference: chr 11
allele count: 3
allele frequency: 2.515934250251593e-5
allele num: 119240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.236-31C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1487-31C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1487-31C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.66-31C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2213-31C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.819-31C>T
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25016
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7698
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

11-71945305-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945305
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945302
    reference: chr 11
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.236-15_236-13delTCC
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1487-15_1487-13delTCC
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.66-15_66-13delTCC
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.819-15_819-13delTCC
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1487-15_1487-13delTCC
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2213-15_2213-13delTCC
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: TCTC
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

11-71945306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945306
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945306
    reference: chr 11
allele count: 1
allele frequency: 8.307165761185599e-6
allele num: 120378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1487-19C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.66-19C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.819-19C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.236-19C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1487-19C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2213-19C>T
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-71945311-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945311
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945311
    reference: chr 11
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.236-14C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1487-14C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.66-14C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1487-14C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.819-14C>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2213-14C>G
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP

11-71945311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945311
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945311
    reference: chr 11
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1487-14C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.236-14C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1487-14C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2213-14C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.819-14C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.66-14C>T
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

11-71945319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945319
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945319
    reference: chr 11
allele count: 2
allele frequency: 1.651336757104876e-5
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1487-6C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.66-6C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2213-6C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.819-6C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1487-6C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.236-6C>T
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2213-6C>T
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

11-71945326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945326
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945326
    reference: chr 11
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2214G>A
  hgvsp: ENST00000298229.2:c.2214G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.237G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1488G>A
  hgvsp: ENST00000541756.1:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.67G>A
  hgvsp: ENSP00000437852.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1488G>A
  hgvsp: ENST00000538751.1:c.1488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.820G>A
  variant of: http://identifiers.org/hgnc/6080
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly23Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-71945326-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945326
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945326
    reference: chr 11
allele count: 3
allele frequency: 2.474390062849507e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.67G>T
  hgvsp: ENSP00000437852.1:p.Gly23Val
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1488G>T
  hgvsp: ENST00000541756.1:c.1488G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1488G>T
  hgvsp: ENST00000538751.1:c.1488G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.237G>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2214G>T
  hgvsp: ENST00000298229.2:c.2214G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.820G>T
  variant of: http://identifiers.org/hgnc/6080
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly23Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

11-71945327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945327
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945327
    reference: chr 11
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.68C>T
  hgvsp: ENST00000535985.1:c.68C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.821C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.238C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1489C>T
  hgvsp: ENSP00000444619.1:p.Leu497Phe
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2215C>T
  hgvsp: ENSP00000298229.2:p.Leu739Phe
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1489C>T
  hgvsp: ENSP00000446360.1:p.Leu497Phe
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu739Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

11-71945329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945329
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945329
    reference: chr 11
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.823C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1491C>T
  hgvsp: ENST00000541756.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.70C>T
  hgvsp: ENSP00000437852.1:p.Ser24Phe
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.240C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1491C>T
  hgvsp: ENST00000538751.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2217C>T
  hgvsp: ENST00000298229.2:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5229
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser24Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-71945332-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945332
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945332
    reference: chr 11
allele count: 12037
allele frequency: 9.924639688664622e-2
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.826A>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2220A>G
  hgvsp: ENST00000298229.2:c.2220A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1494A>G
  hgvsp: ENST00000541756.1:c.1494A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1494A>G
  hgvsp: ENST00000538751.1:c.1494A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.243A>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.73A>G
  hgvsp: ENSP00000437852.1:p.Gln25Arg
  variant of: http://identifiers.org/hgnc/6080
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 932
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 742
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 5.75e1
  variant carriers: 1165
genotype depth: GenotypeDepth
  all individuals: 21788
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 578
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 1162
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.25e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 12618
  bin: 2.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 3.75e1
  variant carriers: 393
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.25e1
  variant carriers: 613
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 4.75e1
  variant carriers: 877
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 6.75e1
  variant carriers: 1090
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 462
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 9.75e1
  variant carriers: 1374
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.25e1
  variant carriers: 1055
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7093
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.75e1
  variant carriers: 5
hgvs: p.Gln25Arg
num of homozygotes: 857
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

11-71945335-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945335
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945335
    reference: chr 11
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1497G>T
  hgvsp: ENSP00000444619.1:p.Lys499Asn
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2223G>T
  hgvsp: ENSP00000298229.2:p.Lys741Asn
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.76G>T
  hgvsp: ENSP00000437852.1:p.Arg26Ile
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1497G>T
  hgvsp: ENSP00000446360.1:p.Lys499Asn
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.246G>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.829G>T
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys741Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

11-71945354-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945354
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945354
    reference: chr 11
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2242A>G
  hgvsp: ENSP00000298229.2:p.Ile748Val
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.265A>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.848A>G
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1516A>G
  hgvsp: ENSP00000446360.1:p.Ile506Val
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.95A>G
  hgvsp: ENST00000535985.1:c.95A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1516A>G
  hgvsp: ENSP00000444619.1:p.Ile506Val
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile748Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

11-71945359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945359
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945359
    reference: chr 11
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.853G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1521G>A
  hgvsp: ENST00000541756.1:c.1521G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.100G>A
  hgvsp: ENSP00000437852.1:p.Ser34Asn
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.270G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1521G>A
  hgvsp: ENST00000538751.1:c.1521G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2247G>A
  hgvsp: ENST00000298229.2:c.2247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser34Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

11-71945363-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945363
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945363
    reference: chr 11
allele count: 5
allele frequency: 4.119498409873614e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.857G>C
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.104G>C
  hgvsp: ENSP00000437852.1:p.Leu35Phe
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2251G>C
  hgvsp: ENSP00000298229.2:p.Glu751Gln
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1525G>C
  hgvsp: ENSP00000446360.1:p.Glu509Gln
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1525G>C
  hgvsp: ENSP00000444619.1:p.Glu509Gln
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.274G>C
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10919
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23916
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu751Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-71945371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945371
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945371
    reference: chr 11
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1533C>T
  hgvsp: ENST00000538751.1:c.1533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1533C>T
  hgvsp: ENST00000541756.1:c.1533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2259C>T
  hgvsp: ENST00000298229.2:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.112C>T
  hgvsp: ENSP00000437852.1:p.Ser38Leu
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.865C>T
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.282C>T
  variant of: http://identifiers.org/hgnc/6080
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10917
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser38Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

11-71945372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71945372
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 71945372
    reference: chr 11
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000541303
  gene symbol: INPPL1
  hgvsc: ENST00000541303.1:n.866G>A
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000444619
  ensembl transcript: ENST00000538751
  gene symbol: INPPL1
  hgvsc: ENST00000538751.1:c.1534G>A
  hgvsp: ENSP00000444619.1:p.Glu512Lys
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000446360
  ensembl transcript: ENST00000541756
  gene symbol: INPPL1
  hgvsc: ENST00000541756.1:c.1534G>A
  hgvsp: ENSP00000446360.1:p.Glu512Lys
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000298229
  ensembl transcript: ENST00000298229
  gene symbol: INPPL1
  hgvsc: ENST00000298229.2:c.2260G>A
  hgvsp: ENSP00000298229.2:p.Glu754Lys
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000165458
  ensembl protein: ENSP00000437852
  ensembl transcript: ENST00000535985
  gene symbol: INPPL1
  hgvsc: ENST00000535985.1:c.113G>A
  hgvsp: ENST00000535985.1:c.113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6080
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165458
  ensembl transcript: ENST00000545355
  gene symbol: INPPL1
  hgvsc: ENST00000545355.1:n.283G>A
  variant of: http://identifiers.org/hgnc/6080
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu754Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-121450242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121450242
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121450242
    reference: chr 12
allele count: 1
allele frequency: 9.225092250922509e-5
allele num: 10840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.146-1293C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.8-1293C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.56-1293C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.152-1293C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.56-1293C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.146-1293C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.56-1293C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.10C>T
  hgvsp: ENSP00000444399.1:p.Gln4Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.91-1293C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.146-1293C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln4Ter
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

12-121450270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121450270
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121450270
    reference: chr 12
allele count: 3
allele frequency: 2.766506824050166e-4
allele num: 10844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.56-1321C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.91-1321C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-19C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.56-1321C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.146-1321C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.146-1321C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.56-1321C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.8-1321C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.146-1321C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.152-1321C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-121450293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121450293
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121450293
    reference: chr 12
allele count: 1
allele frequency: 9.191176470588235e-5
allele num: 10880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.56-1344C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.146-1344C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.152-1344C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.56-1344C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.146-1344C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.8-1344C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.56-1344C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-42C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.91-1344C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.146-1344C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

12-121450294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121450294
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121450294
    reference: chr 12
allele count: 1
allele frequency: 9.186110600771634e-5
allele num: 10886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.146-1345C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.56-1345C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.56-1345C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.56-1345C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.152-1345C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.8-1345C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.146-1345C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-43C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.146-1345C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.91-1345C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-121454015-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454015
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454015
    reference: chr 12
allele count: 3
allele frequency: 3.18775900541919e-5
allele num: 94110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+47C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+118C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+118C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+118C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+118C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+118C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+118C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+118C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+118C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+118C>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4553
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS

12-121454018-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454018
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454016
    reference: chr 12
allele count: 1
allele frequency: 1.05782046671039e-5
allele num: 94534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+42_7+43delGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+113_151+114delGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+113_145+114delGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+113_55+114delGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+113_55+114delGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+113_90+114delGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+113_-239+114delGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+113_55+114delGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+113_145+114delGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+113_145+114delGA
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: GTC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

12-121454021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454021
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454021
    reference: chr 12
allele count: 1
allele frequency: 1.052720229071922e-5
allele num: 94992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+112A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+112A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+112A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+112A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+112A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+112A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+112A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+41A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+112A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+112A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-121454024-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454024
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454024
    reference: chr 12
allele count: 1
allele frequency: 1.056077727320731e-5
allele num: 94690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+109G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+109G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+109G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+109G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+109G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+109G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+38G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+109G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+109G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+109G>C
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

12-121454024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454024
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454024
    reference: chr 12
allele count: 1
allele frequency: 1.056077727320731e-5
allele num: 94690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+109G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+109G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+109G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+109G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+109G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+109G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+109G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+109G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+38G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+109G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18175
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-121454028-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454028
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454028
    reference: chr 12
allele count: 1
allele frequency: 1.043187982474442e-5
allele num: 95860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+105C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+105C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+105C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+105C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+34C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+105C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+105C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+105C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+105C>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+105C>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7534
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-121454031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454031
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454031
    reference: chr 12
allele count: 3
allele frequency: 3.105461471574676e-5
allele num: 96604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+102C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+102C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+102C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+102C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+102C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+102C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+31C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+102C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+102C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+102C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14434
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

12-121454045-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454045
    reference: chr 12
allele count: 1
allele frequency: 9.658662854714393e-6
allele num: 103534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+88T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+88T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+88T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+88T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+88T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+17T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+88T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+88T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+88T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+88T>A
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27844
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-121454049-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454047
    reference: chr 12
allele count: 3
allele frequency: 2.839134631764238e-5
allele num: 105666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+82_55+83delAG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+82_90+83delAG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+82_-239+83delAG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+82_55+83delAG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+82_55+83delAG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+82_145+83delAG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+11_7+12delAG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+82_151+83delAG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+82_145+83delAG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+82_145+83delAG
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30151
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28427
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: ACT
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

12-121454056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454056
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454056
    reference: chr 12
allele count: 1
allele frequency: 9.165230780511052e-6
allele num: 109108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+77G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+77G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+77G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+77G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+77G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+6G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+77G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+77G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+77G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+77G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
hgvs: c.7+6G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

12-121454057-C-CTCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454057
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454060
    reference: chr 12
allele count: 1
allele frequency: 9.129752035934704e-6
allele num: 109532
alternate allele: CTCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+73_145+75dupTGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+73_55+75dupTGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+73_55+75dupTGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+73_55+75dupTGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+73_145+75dupTGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+73_145+75dupTGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7+2_7+4dupTGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+73_151+75dupTGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+73_-239+75dupTGA
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+73_90+75dupTGA
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33306
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
hgvs: c.7+2_7+4dupTGA
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

12-121454062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454062
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454062
    reference: chr 12
allele count: 1
allele frequency: 8.965875876414367e-6
allele num: 111534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.7G>A
  hgvsp: ENSP00000438856.1:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+71G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly3Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-121454078-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454078
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454078
    reference: chr 12
allele count: 1
allele frequency: 8.698526469616046e-6
allele num: 114962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+55G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+55G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+55G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-10G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+55G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+55G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+55G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+55G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+55G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+55G>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-121454092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454092
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454092
    reference: chr 12
allele count: 2
allele frequency: 1.717622810030917e-5
allele num: 116440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+41G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+41G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+41G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+41G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+41G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+41G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+41G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+41G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+41G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

12-121454096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454096
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454096
    reference: chr 12
allele count: 1
allele frequency: 8.56898029134533e-6
allele num: 116700
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+37G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+37G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+37G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+37G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+37G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+37G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+37G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+37G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+37G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-121454100-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454100
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454100
    reference: chr 12
allele count: 1
allele frequency: 8.538105565137207e-6
allele num: 117122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+33G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+33G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+33G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+33G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+33G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+33G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-32G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+33G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+33G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+33G>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-121454105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454105
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454105
    reference: chr 12
allele count: 1
allele frequency: 8.512811781731506e-6
allele num: 117470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+28C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+28C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+28C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+28C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+28C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+28C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+28C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+28C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+28C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-121454110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454110
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454110
    reference: chr 12
allele count: 3
allele frequency: 2.547165005349046e-5
allele num: 117778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+23A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+23A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+23A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+23A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+23A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+23A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+23A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+23A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+23A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-121454115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454115
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454115
    reference: chr 12
allele count: 1
allele frequency: 8.470125866070369e-6
allele num: 118062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+18G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+18G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+18G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+18G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+18G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-47G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+18G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+18G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+18G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+18G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35836
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

12-121454117-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454117
    reference: chr 12
allele count: 1
allele frequency: 8.464247020585048e-6
allele num: 118144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+16T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+16T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+16T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+16T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+16T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-49T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+16T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+16T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+16T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+16T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-121454118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454118
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454118
    reference: chr 12
allele count: 1
allele frequency: 8.461811843151855e-6
allele num: 118178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+15T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+15T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+15T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-50T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+15T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+15T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+15T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+15T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+15T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+15T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-121454121-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454121
    reference: chr 12
allele count: 1
allele frequency: 8.45394291897741e-6
allele num: 118288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+12T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+12T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+12T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+12T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+12T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+12T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+12T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+12T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+12T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-53T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

12-121454130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454130
    reference: chr 12
allele count: 1
allele frequency: 8.43469019382918e-6
allele num: 118558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+3A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+3A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+3A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+3A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+3A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+3A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+3A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-62A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+3A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+3A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 2.25e1
  variant carriers: 0
hgvs: c.145+3A>G
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

12-121454132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454132
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454132
    reference: chr 12
allele count: 1
allele frequency: 8.428150021070375e-6
allele num: 118650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55+1G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151+1G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145+1G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239+1G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90+1G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55+1G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145+1G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55+1G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145+1G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-64G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
hgvs: c.145+1G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-121454133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454133
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454133
    reference: chr 12
allele count: 1
allele frequency: 8.426303549159055e-6
allele num: 118676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.151G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-239G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.55G>A
  hgvsp: ENSP00000442224.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.55G>A
  hgvsp: ENSP00000442041.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.145G>A
  hgvsp: ENSP00000437546.2:p.Gly49Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.145G>A
  hgvsp: ENSP00000437803.1:p.Gly49Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.145G>A
  hgvsp: ENSP00000288757.3:p.Gly49Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.55G>A
  hgvsp: ENSP00000409788.2:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.90G>A
  hgvsp: ENST00000539088.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly49Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-121454137-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454137
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454136
    reference: chr 12
allele count: 1
allele frequency: 8.415808254224735e-6
allele num: 118824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.50delG
  hgvsp: ENSP00000442224.1:p.Arg17LysfsTer32
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.50delG
  hgvsp: ENSP00000409788.2:p.Arg17LysfsTer20
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.140delG
  hgvsp: ENSP00000437803.1:p.Arg47LysfsTer20
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-70delG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-244delG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.146delG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.85delG
  hgvsp: ENSP00000439393.1:p.Glu29SerfsTer6
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.50delG
  hgvsp: ENSP00000442041.1:p.Arg17LysfsTer115
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.140delG
  hgvsp: ENSP00000288757.3:p.Arg47LysfsTer20
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.140delG
  hgvsp: ENSP00000437546.2:p.Arg47LysfsTer20
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg47LysfsTer20
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: TC
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-121454148-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454148
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454148
    reference: chr 12
allele count: 5870
allele frequency: 4.925240388649293e-2
allele num: 119182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.130G>A
  hgvsp: ENSP00000437546.2:p.Gly44Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.-80G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.40G>A
  hgvsp: ENSP00000409788.2:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.130G>A
  hgvsp: ENSP00000288757.3:p.Gly44Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.40G>A
  hgvsp: ENSP00000442224.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.40G>A
  hgvsp: ENSP00000442041.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.130G>A
  hgvsp: ENSP00000437803.1:p.Gly44Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-254G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.136G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.75G>A
  hgvsp: ENST00000539088.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 6.25e1
  variant carriers: 539
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.75e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.25e1
  variant carriers: 470
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.75e1
  variant carriers: 618
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.25e1
  variant carriers: 638
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 31858
  bin: 2.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.75e1
  variant carriers: 452
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 3.25e1
  variant carriers: 240
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 2.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 543
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.75e1
  variant carriers: 295
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly44Arg
num of homozygotes: 234
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-121454155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454155
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454155
    reference: chr 12
allele count: 1
allele frequency: 8.380965151946898e-6
allele num: 119318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.129C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.123C>T
  hgvsp: ENST00000539736.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.33C>T
  hgvsp: ENST00000445832.3:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.33C>T
  hgvsp: ENST00000537817.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.123C>T
  hgvsp: ENST00000536407.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.33C>T
  hgvsp: ENST00000538296.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.123C>T
  hgvsp: ENST00000288757.3:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-261C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.68C>T
  hgvsp: ENSP00000439393.1:p.Thr23Met
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6383
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr23Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-121454158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454158
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454158
    reference: chr 12
allele count: 2
allele frequency: 1.675518992007774e-5
allele num: 119366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.30G>A
  hgvsp: ENST00000537817.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.65G>A
  hgvsp: ENSP00000439393.1:p.Arg22His
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.120G>A
  hgvsp: ENST00000539736.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.126G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.120G>A
  hgvsp: ENST00000288757.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-264G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.30G>A
  hgvsp: ENST00000445832.3:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.30G>A
  hgvsp: ENST00000538296.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.120G>A
  hgvsp: ENST00000536407.2:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg22His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

12-121454165-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454165
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454165
    reference: chr 12
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.58A>C
  hgvsp: ENSP00000439393.1:p.Asn20His
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.23A>C
  hgvsp: ENSP00000442224.1:p.Gln8Pro
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.23A>C
  hgvsp: ENSP00000442041.1:p.Gln8Pro
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.119A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.113A>C
  hgvsp: ENSP00000437803.1:p.Gln38Pro
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-271A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.23A>C
  hgvsp: ENSP00000409788.2:p.Gln8Pro
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.113A>C
  hgvsp: ENSP00000437546.2:p.Gln38Pro
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.113A>C
  hgvsp: ENSP00000288757.3:p.Gln38Pro
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln38Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-121454170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454170
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454170
    reference: chr 12
allele count: 1
allele frequency: 8.350870160670742e-6
allele num: 119748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.53G>A
  hgvsp: ENSP00000439393.1:p.Trp18Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.18G>A
  hgvsp: ENST00000445832.3:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-276G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.18G>A
  hgvsp: ENST00000538296.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.108G>A
  hgvsp: ENST00000288757.3:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.18G>A
  hgvsp: ENST00000537817.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.114G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.108G>A
  hgvsp: ENST00000539736.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.108G>A
  hgvsp: ENST00000536407.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp18Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-121454171-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454171
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454171
    reference: chr 12
allele count: 1
allele frequency: 8.347106058329577e-6
allele num: 119802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.107T>C
  hgvsp: ENSP00000437803.1:p.Leu36Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.17T>C
  hgvsp: ENSP00000442224.1:p.Leu6Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.17T>C
  hgvsp: ENSP00000442041.1:p.Leu6Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.113T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.17T>C
  hgvsp: ENSP00000409788.2:p.Leu6Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.107T>C
  hgvsp: ENSP00000288757.3:p.Leu36Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.52T>C
  hgvsp: ENSP00000439393.1:p.Trp18Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-277T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.107T>C
  hgvsp: ENSP00000437546.2:p.Leu36Ser
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu36Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-121454173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454173
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454173
    reference: chr 12
allele count: 1
allele frequency: 8.345852111500584e-6
allele num: 119820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.50C>T
  hgvsp: ENSP00000439393.1:p.Ala17Val
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.111C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.105C>T
  hgvsp: ENST00000539736.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-279C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.15C>T
  hgvsp: ENST00000445832.3:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.15C>T
  hgvsp: ENST00000538296.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.105C>T
  hgvsp: ENST00000288757.3:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.105C>T
  hgvsp: ENST00000536407.2:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.15C>T
  hgvsp: ENST00000537817.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala17Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-121454177-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454177
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454177
    reference: chr 12
allele count: 4
allele frequency: 3.338452293516726e-5
allele num: 119816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.107G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.101G>T
  hgvsp: ENSP00000288757.3:p.Trp34Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.101G>T
  hgvsp: ENSP00000437803.1:p.Trp34Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.11G>T
  hgvsp: ENSP00000409788.2:p.Trp4Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.101G>T
  hgvsp: ENSP00000437546.2:p.Trp34Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.11G>T
  hgvsp: ENSP00000442041.1:p.Trp4Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-283G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.46G>T
  hgvsp: ENSP00000439393.1:p.Gly16Trp
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.11G>T
  hgvsp: ENSP00000442224.1:p.Trp4Leu
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp34Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

12-121454179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454179
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454179
    reference: chr 12
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.105T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.9T>C
  hgvsp: ENST00000537817.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.99T>C
  hgvsp: ENST00000539736.1:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.99T>C
  hgvsp: ENST00000536407.2:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.9T>C
  hgvsp: ENST00000445832.3:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.44T>C
  hgvsp: ENSP00000439393.1:p.Leu15Pro
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.9T>C
  hgvsp: ENST00000538296.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.99T>C
  hgvsp: ENST00000288757.3:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-285T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu15Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

12-121454182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454182
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454182
    reference: chr 12
allele count: 2
allele frequency: 1.66472448809722e-5
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.6G>A
  hgvsp: ENST00000537817.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.96G>A
  hgvsp: ENST00000536407.2:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.96G>A
  hgvsp: ENST00000288757.3:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.6G>A
  hgvsp: ENST00000445832.3:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.96G>A
  hgvsp: ENST00000539736.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.6G>A
  hgvsp: ENST00000538296.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.41G>A
  hgvsp: ENSP00000439393.1:p.Arg14Gln
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.102G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-288G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg14Gln
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

12-121454183-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454183
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454183
    reference: chr 12
allele count: 1
allele frequency: 8.318775476249896e-6
allele num: 120210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.5C>A
  hgvsp: ENSP00000409788.2:p.Pro2Gln
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.101C>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.5C>A
  hgvsp: ENSP00000442041.1:p.Pro2Gln
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.95C>A
  hgvsp: ENSP00000437803.1:p.Pro32Gln
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.95C>A
  hgvsp: ENSP00000437546.2:p.Pro32Gln
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.40C>A
  hgvsp: ENST00000539088.1:c.40C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-289C>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.5C>A
  hgvsp: ENSP00000442224.1:p.Pro2Gln
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.95C>A
  hgvsp: ENSP00000288757.3:p.Pro32Gln
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro32Gln
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

12-121454187-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454187
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454187
    reference: chr 12
allele count: 81
allele frequency: 6.730593455536537e-4
allele num: 120346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.36A>G
  hgvsp: ENST00000539088.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.1A>G
  hgvsp: ENSP00000409788.2:p.Met1?
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.1A>G
  hgvsp: ENSP00000442041.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.91A>G
  hgvsp: ENSP00000437803.1:p.Met31Val
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.91A>G
  hgvsp: ENSP00000288757.3:p.Met31Val
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.1A>G
  hgvsp: ENSP00000442224.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.97A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-293A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.91A>G
  hgvsp: ENSP00000437546.2:p.Met31Val
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31658
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

12-121454188-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454188
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454188
    reference: chr 12
allele count: 13
allele frequency: 1.079985378659489e-4
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.90A>G
  hgvsp: ENST00000539736.1:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.35A>G
  hgvsp: ENSP00000439393.1:p.Gln12Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.90A>G
  hgvsp: ENST00000536407.2:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.96A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.-1A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-294A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.90A>G
  hgvsp: ENST00000288757.3:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32625
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln12Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-121454189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454189
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454189
    reference: chr 12
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.34C>T
  hgvsp: ENSP00000439393.1:p.Gln12Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.89C>T
  hgvsp: ENSP00000437546.2:p.Ala30Val
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.-295C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.89C>T
  hgvsp: ENSP00000288757.3:p.Ala30Val
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.89C>T
  hgvsp: ENSP00000437803.1:p.Ala30Val
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.95C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.-2C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln12Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-121454190-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121454190
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121454190
    reference: chr 12
allele count: 2
allele frequency: 1.661405549094534e-5
allele num: 120380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.33G>C
  hgvsp: ENST00000539088.1:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ala30Pro
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 3724
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

DP
type: SiteQuality
SIO_000300: 2.820399e6

MQRankSum
type: SiteQuality
SIO_000300: -4.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.696e0

MQ
type: SiteQuality
SIO_000300: 5.816e1

QD
type: SiteQuality
SIO_000300: 1.395e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

FS
type: SiteQuality
SIO_000300: 3.942e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.529e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 2248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 2.269e0

DP
type: SiteQuality
SIO_000300: 2.819424e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

QD
type: SiteQuality
SIO_000300: 1.504e1

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

GenotypeQuality
all individuals: 3833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32201
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7009
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.746e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 2.902e0

VQSLOD
type: SiteQuality
SIO_000300: 8.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 2.810691e6

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

GenotypeQuality
all individuals: 409
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3970
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.337e1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

FS
type: SiteQuality
SIO_000300: 2.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.037e0

DP
type: SiteQuality
SIO_000300: 2.785876e6

GenotypeQuality
all individuals: 2047
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32165
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.135722174499939e-5
allele num: 16298
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.784306e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3958
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 6.068e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.315e1

DP
type: SiteQuality
SIO_000300: 2.783019e6

GenotypeQuality
all individuals: 1559
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4433
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20044
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7642
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 771
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533977603926983e-5
allele num: 65190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 4.002e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.763e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

DP
type: SiteQuality
SIO_000300: 1.640356e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7093
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.656748140276302e-4
allele num: 11292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.640356e6

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

FS
type: SiteQuality
SIO_000300: 4.002e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.763e0

GenotypeQuality
all individuals: 1397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7672
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3417
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7423
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.122199093914534e-5
allele num: 16334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.119014838610984e-5
allele num: 65370
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.572e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 1.66996e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
all individuals: 3625
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.118453255017132e-5
allele num: 16344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.051478441304812e-5
allele num: 65542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

DP
type: SiteQuality
SIO_000300: 1.688119e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 9.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7745
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26233
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GenotypeQuality
all individuals: 8176
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 1.727665e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

QD
type: SiteQuality
SIO_000300: 1.297e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.781e1

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7746
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 569
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3865
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8167
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.246e0

FS
type: SiteQuality
SIO_000300: 4.963e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

DP
type: SiteQuality
SIO_000300: 1.730904e6

GenotypeQuality
all individuals: 370
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.017e0

QD
type: SiteQuality
SIO_000300: 1.454e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

FS
type: SiteQuality
SIO_000300: 1.661e0

DP
type: SiteQuality
SIO_000300: 1.741164e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.741164e6

QD
type: SiteQuality
SIO_000300: 1.454e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.661e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.017e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 3808
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00336376741951e-5
allele num: 66592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.5323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.887e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.376e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

DP
type: SiteQuality
SIO_000300: 1.750831e6

QD
type: SiteQuality
SIO_000300: 2.714e1

GenotypeQuality
all individuals: 4005
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2317
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.084e0

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

DP
type: SiteQuality
SIO_000300: 1.755564e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.481e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.625e0

GenotypeQuality
all individuals: 3845
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7800
bin: 9.75e1
variant carriers: 3

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499910001799964e-5
allele num: 66668
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.084e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.625e0

QD
type: SiteQuality
SIO_000300: 1.481e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 1.755564e6

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7803
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.755944e6

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2319
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 3857
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variant carriers: 0

GenotypeQuality
all individuals: 4017
bin: 7.25e1
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GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.756569e6

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.522e1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 6.504e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.563e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1869
bin: 9.25e1
variant carriers: 10

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11132

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 2823
allele frequency: 2.718605546995377e-1
allele num: 10384
num of homozygotes: 375

European (Finnish)
type: Population
allele count: 698
allele frequency: 1.056935190793458e-1
allele num: 6604
num of homozygotes: 41

South Asian
type: Population
allele count: 1364
allele frequency: 8.264663111972854e-2
allele num: 16504
num of homozygotes: 63

European (Non-Finnish)
type: Population
allele count: 4327
allele frequency: 6.486672863010824e-2
allele num: 66706
num of homozygotes: 164

Other
type: Population
allele count: 91
allele frequency: 1.004415011037528e-1
allele num: 906
num of homozygotes: 5

Latino
type: Population
allele count: 1389
allele frequency: 1.203014030833189e-1
allele num: 11546
num of homozygotes: 89

East Asian
type: Population
allele count: 1345
allele frequency: 1.557794764883021e-1
allele num: 8634
num of homozygotes: 120

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.494e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.34e-2

DP
type: SiteQuality
SIO_000300: 2.1886e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1987
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 2634
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.576e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e0

DP
type: SiteQuality
SIO_000300: 1.893215e6

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.376e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 3896
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 3
allele frequency: 2.130076682760579e-4
allele num: 14084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6910
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 1.147919e6

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

FS
type: SiteQuality
SIO_000300: 1.631e0

GenotypeQuality
all individuals: 1580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.921451079855507e-5
allele num: 52044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.345e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.153878e6

MQ
type: SiteQuality
SIO_000300: 6.063e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.096731739416539e-4
allele num: 9118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52304
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.441e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 5.716e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

DP
type: SiteQuality
SIO_000300: 1.16561e6

QD
type: SiteQuality
SIO_000300: 6.91e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
all individuals: 950
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.918207626793524e-5
allele num: 52132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.859e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

QD
type: SiteQuality
SIO_000300: 6.01e0

DP
type: SiteQuality
SIO_000300: 1.181836e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2768
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
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variant carriers: 0

GenotypeQuality
all individuals: 1789
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 693
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.528584530724549e-4
allele num: 6542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14116
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 1.181836e6

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.859e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 6.01e0

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)
type: Population
allele count: 1
allele frequency: 1.892505677517033e-5
allele num: 52840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9168
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.445e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.709e0

DP
type: SiteQuality
SIO_000300: 1.21202e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.511e1

MQRankSum
type: SiteQuality
SIO_000300: -1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.875e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.756574004507889e-5
allele num: 53240
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.009673349221926e-5
allele num: 14266
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.238588e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 1.3156e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14906
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.794043774668102e-4
allele num: 5574
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56942
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.264e0

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

Latino
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allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

East Asian
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allele frequency: 1.307873397855088e-4
allele num: 7646
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.248751248751249e-4
allele num: 8008
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 1.455111e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10736
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.668557698725222e-5
allele num: 59932
num of homozygotes: 0

ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: 2.39e0

MQ
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FS
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SIO_000300: 7.471e0

ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 9.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
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Latino
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5890
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60170
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African
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allele count: 1
allele frequency: 1.197891710589363e-4
allele num: 8348
num of homozygotes: 0

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -5.600000000000001e-1

MQRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.523719e6

ReadPosRankSum
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SIO_000300: -9.330000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.99e-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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10992
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.361323155216285e-5
allele num: 15720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61196
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6034
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MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.082e1

FS
type: SiteQuality
SIO_000300: 7.683e0

VQSLOD
type: SiteQuality
SIO_000300: -1.76e0

InbreedingCoeff
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SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.875e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

DP
type: SiteQuality
SIO_000300: 1.558218e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.02e-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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587452773279995e-5
allele num: 62994
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
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SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

DP
type: SiteQuality
SIO_000300: 1.615542e6

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.56897200953935e-5
allele num: 63736
num of homozygotes: 0

Latino
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allele frequency: 8.804366966015144e-5
allele num: 11358
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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Other
type: Population
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South Asian
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 64126
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64316
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
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East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.096e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.482e0

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

Latino
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allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.652172564587662e-5
allele num: 64486
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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ClippingRankSum
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SIO_000300: -1.95e-1

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

Other
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.54640769492469e-5
allele num: 64666
num of homozygotes: 0

South Asian
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QD
type: SiteQuality
SIO_000300: 1.058e1

FS
type: SiteQuality
SIO_000300: 6.509e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545021939311538e-5
allele num: 64724
num of homozygotes: 0

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

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

East Asian
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MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

DP
type: SiteQuality
SIO_000300: 1.669058e6

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.504e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.58e-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: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.544544668231805e-5
allele num: 64744
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.107e0

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -2.874e0

MQ
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SIO_000300: 5.768e1

InbreedingCoeff
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SIO_000300: -5.0e-4

BaseQRankSum
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SIO_000300: 2.77e0

DP
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MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-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: 0

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

African
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allele frequency: 1.03498240529911e-4
allele num: 9662
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11466
num of homozygotes: 0

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

South Asian
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allele frequency: 6.073120369245719e-5
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Other
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MQRankSum
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FS
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2673
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GenotypeQuality
all individuals: 6120
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537609939110646e-5
allele num: 65036
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 4.706e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.622e0

DP
type: SiteQuality
SIO_000300: 1.676484e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
all individuals: 1401
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535437906891045e-5
allele num: 65128
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.423e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.183e0

DP
type: SiteQuality
SIO_000300: 1.677862e6

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

FS
type: SiteQuality
SIO_000300: 9.864000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.074e1

GenotypeQuality
all individuals: 238
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 5600

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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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: 111
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variant carriers: 2

GenotypeQuality
all individuals: 880
bin: 9.25e1
variant carriers: 8

East Asian
type: Population
allele count: 2
allele frequency: 2.346866932644919e-4
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 300
allele frequency: 2.610057421263268e-2
allele num: 11494
num of homozygotes: 6

South Asian
type: Population
allele count: 1411
allele frequency: 8.56085426525907e-2
allele num: 16482
num of homozygotes: 98

African
type: Population
allele count: 107
allele frequency: 1.086294416243655e-2
allele num: 9850
num of homozygotes: 2

Other
type: Population
allele count: 54
allele frequency: 6.040268456375839e-2
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3620
allele frequency: 5.538725175188959e-2
allele num: 65358
num of homozygotes: 115

European (Finnish)
type: Population
allele count: 376
allele frequency: 5.712549377089031e-2
allele num: 6582
num of homozygotes: 13

BaseQRankSum
type: SiteQuality
SIO_000300: -1.595e0

DP
type: SiteQuality
SIO_000300: 1.842896e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 32317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 2.25e1
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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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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variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65448
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.822e0

VQSLOD
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

QD
type: SiteQuality
SIO_000300: 1.507e1

DP
type: SiteQuality
SIO_000300: 1.826855e6

GenotypeQuality
all individuals: 231
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 8
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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: 9646
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 157
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GenotypeQuality
all individuals: 6393
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.055114261273371e-5
allele num: 65464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.62e-1

DP
type: SiteQuality
SIO_000300: 1.828118e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.104e1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6479
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523647001462701e-5
allele num: 65632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.63e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 2.807e0

DP
type: SiteQuality
SIO_000300: 1.832579e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 282
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variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65666
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

FS
type: SiteQuality
SIO_000300: 4.608e0

DP
type: SiteQuality
SIO_000300: 1.835401e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 32313
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522023682688503e-5
allele num: 65702
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.862e0

QD
type: SiteQuality
SIO_000300: 1.143e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.232e0

DP
type: SiteQuality
SIO_000300: 1.836121e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6480
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GenotypeQuality
all individuals: 32271
bin: 6.25e1
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GenotypeQuality
all individuals: 31
bin: 1.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9677
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.194e1

VQSLOD
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 1.836964e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 1.1946e1

MQ
type: SiteQuality
SIO_000300: 5.882e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.495688650664181e-4
allele num: 8582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.668e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.087e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.19e-1

DP
type: SiteQuality
SIO_000300: 1.843866e6

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

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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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

DP
type: SiteQuality
SIO_000300: 1.845796e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.62e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 5.293e0

QD
type: SiteQuality
SIO_000300: 1.613e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.982553528945282e-4
allele num: 10088
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.583e0

FS
type: SiteQuality
SIO_000300: 8.675000000000001e0

QD
type: SiteQuality
SIO_000300: 1.323e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 1.847482e6

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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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65964
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.459e1

DP
type: SiteQuality
SIO_000300: 1.848598e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 80

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

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

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

African
type: Population
allele count: 4
allele frequency: 3.949447077409163e-4
allele num: 10128
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.029398407460111e-3
allele num: 66058
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.793557325943886e-4
allele num: 11548
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.488e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

DP
type: SiteQuality
SIO_000300: 1.853948e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66076
num of homozygotes: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 7.876878332525448e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.854528e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.314e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1150
bin: 9.25e1
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514004542013626e-5
allele num: 66050
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.222e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.854584e6

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0