3-122630167-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630167
    reference: chr 3
allele count: 2
allele frequency: 1.799856011519078e-4
allele num: 11112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3216+40C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+171C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3222+40C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+171C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+171C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+171C>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22282
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7257
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

3-122630169-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630169
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630169
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 12366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3216+38C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+169C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+169C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+169C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3222+38C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+169C>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6012
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

3-122630170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630170
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630170
    reference: chr 3
allele count: 1
allele frequency: 8.063215610385422e-5
allele num: 12402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+168C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+168C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3216+37C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+168C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+168C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3222+37C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6423
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-122630172-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630172
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630172
    reference: chr 3
allele count: 1
allele frequency: 7.99488327470419e-5
allele num: 12508
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+166C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+166C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+166C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3222+35C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3216+35C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+166C>G
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6054
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

3-122630173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630173
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630173
    reference: chr 3
allele count: 4
allele frequency: 3.204101249599487e-4
allele num: 12484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3222+34C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+165C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+165C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+165C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+165C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3216+34C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16454
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-122630185-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630185
    reference: chr 3
allele count: 1
allele frequency: 7.464914899970141e-5
allele num: 13396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+153G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+153G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+153G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+153G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3222+22G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3216+22G>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-122630192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630192
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630192
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 14518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+146C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+146C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3222+15C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3216+15C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+146C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+146C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25445
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS

3-122630195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630195
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630195
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 14850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+143G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3216+12G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+143G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3222+12G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+143G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+143G>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-122630207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630207
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630207
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 16734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+131G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+131G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3222G>A
  hgvsp: ENSP00000417570.1:p.Met1074Ile
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+131G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3216G>A
  hgvsp: ENSP00000195173.4:p.Met1072Ile
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+131G>A
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28238
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25318
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met1072Ile
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

3-122630209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630209
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630209
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 17066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3214A>G
  hgvsp: ENSP00000195173.4:p.Met1072Val
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+129A>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+129A>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3220A>G
  hgvsp: ENSP00000417570.1:p.Met1074Val
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+129A>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+129A>G
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 28575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met1072Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

3-122630216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630216
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630216
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 18010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3207C>T
  hgvsp: ENST00000195173.4:c.3207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3213C>T
  hgvsp: ENST00000475244.1:c.3213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+122C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+122C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+122C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+122C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29683
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27452
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys1069Cys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS

3-122630237-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630237
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630237
    reference: chr 3
allele count: 1
allele frequency: 4.73305566073457e-5
allele num: 21128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3192G>C
  hgvsp: ENSP00000417570.1:p.Lys1064Asn
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+101G>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+101G>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3186G>C
  hgvsp: ENSP00000195173.4:p.Lys1062Asn
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+101G>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+101G>C
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys1062Asn
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-122630242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630242
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630242
    reference: chr 3
allele count: 1
allele frequency: 4.585893790699807e-5
allele num: 21806
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+96G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3181G>A
  hgvsp: ENSP00000195173.4:p.Ala1061Thr
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+96G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+96G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+96G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3187G>A
  hgvsp: ENSP00000417570.1:p.Ala1063Thr
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1061Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/3-122630252-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630252
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630252
    reference: chr 3
allele count: 4
allele frequency: 1.667222407469156e-4
allele num: 23992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3177G>T
  hgvsp: ENST00000475244.1:c.3177G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3171G>T
  hgvsp: ENST00000195173.4:c.3171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+86G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+86G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+86G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+86G>T
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26434
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17125
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1057Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

3-122630256-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630256
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630256
    reference: chr 3
allele count: 35
allele frequency: 1.384822347076046e-3
allele num: 25274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+82T>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3173T>A
  hgvsp: ENSP00000417570.1:p.Ile1058Asn
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+82T>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3167T>A
  hgvsp: ENSP00000195173.4:p.Ile1056Asn
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+82T>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+82T>A
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18733
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23834
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile1056Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-122630272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630272
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630272
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 31030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3151C>T
  hgvsp: ENST00000195173.4:c.3151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+66C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+66C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3157C>T
  hgvsp: ENST00000475244.1:c.3157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+66C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+66C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23834
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21754
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1051Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

3-122630279-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630279
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630279
    reference: chr 3
allele count: 1
allele frequency: 2.918685424084992e-5
allele num: 34262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+59C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3144C>G
  hgvsp: ENST00000195173.4:c.3144C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+59C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3150C>G
  hgvsp: ENST00000475244.1:c.3150C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+59C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+59C>G
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1048Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

3-122630289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630289
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630289
    reference: chr 3
allele count: 21
allele frequency: 5.135227661759672e-4
allele num: 40894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+49G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+49G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3134G>A
  hgvsp: ENSP00000195173.4:p.Gly1045Asp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+49G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+49G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3140G>A
  hgvsp: ENSP00000417570.1:p.Gly1047Asp
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12229
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26301
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11940
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24456
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10627
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1045Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

3-122630290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630290
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630290
    reference: chr 3
allele count: 147
allele frequency: 3.469763489590709e-3
allele num: 42366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+48G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3139G>A
  hgvsp: ENSP00000417570.1:p.Gly1047Ser
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+48G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+48G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+48G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3133G>A
  hgvsp: ENSP00000195173.4:p.Gly1045Ser
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11458
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26351
  bin: 7.5e0
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 1.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11444
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24693
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11242
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11123
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Gly1045Ser
num of homozygotes: 1
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

3-122630291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630291
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630291
    reference: chr 3
allele count: 535
allele frequency: 1.203870387038704e-2
allele num: 44440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3132C>T
  hgvsp: ENST00000195173.4:c.3132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+47C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+47C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+47C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3138C>T
  hgvsp: ENST00000475244.1:c.3138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+47C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 26322
  bin: 7.5e0
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 2.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 10233
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 11200
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 24184
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 4
hgvs: p.Ser1044Ser
num of homozygotes: 3
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP

3-122630299-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630299
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630299
    reference: chr 3
allele count: 3
allele frequency: 5.85480093676815e-5
allele num: 51240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+39C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3124C>A
  hgvsp: ENSP00000195173.4:p.Gln1042Lys
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+39C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+39C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+39C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3130C>A
  hgvsp: ENSP00000417570.1:p.Gln1044Lys
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln1042Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

3-122630299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630299
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630299
    reference: chr 3
allele count: 1
allele frequency: 1.95160031225605e-5
allele num: 51240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+39C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+39C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+39C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3130C>T
  hgvsp: ENSP00000417570.1:p.Gln1044Ter
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+39C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3124C>T
  hgvsp: ENSP00000195173.4:p.Gln1042Ter
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln1042Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

3-122630300-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630300
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630300
    reference: chr 3
allele count: 2
allele frequency: 3.845266476966854e-5
allele num: 52012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+38C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+38C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3129C>G
  hgvsp: ENST00000475244.1:c.3129C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+38C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3123C>G
  hgvsp: ENST00000195173.4:c.3123C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+38C>G
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1041Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

3-122630307-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630307
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630307
    reference: chr 3
allele count: 1
allele frequency: 1.748374012168683e-5
allele num: 57196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3122G>C
  hgvsp: ENSP00000417570.1:p.Arg1041Pro
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3116G>C
  hgvsp: ENSP00000195173.4:p.Arg1039Pro
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+31G>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+31G>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+31G>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+31G>C
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1039Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

3-122630308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630308
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630308
    reference: chr 3
allele count: 5
allele frequency: 8.588704136319912e-5
allele num: 58216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3121C>T
  hgvsp: ENSP00000417570.1:p.Arg1041Trp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+30C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+30C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3115C>T
  hgvsp: ENSP00000195173.4:p.Arg1039Trp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+30C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+30C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24726
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg1039Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

3-122630323-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630323
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630323
    reference: chr 3
allele count: 71367
allele frequency: 7.377806723731547e-1
allele num: 96732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+15A>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+15A>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+15A>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3106A>C
  hgvsp: ENSP00000417570.1:p.Thr1036Pro
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3100A>C
  hgvsp: ENSP00000195173.4:p.Thr1034Pro
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+15A>C
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.75e1
  variant carriers: 1427
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 1702
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 1257
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.25e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 1.75e1
  variant carriers: 7866
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 516
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 1015
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.5e0
  variant carriers: 853
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.75e1
  variant carriers: 850
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 2.25e1
  variant carriers: 6175
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 3263
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.75e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 2.75e1
  variant carriers: 4730
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 702
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 599
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 1678
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 1.25e1
  variant carriers: 9464
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 3.75e1
  variant carriers: 2288
genotype depth: GenotypeDepth
  all individuals: 9132
  bin: 7.5e0
  variant carriers: 6428
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 5.75e1
  variant carriers: 1159
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 3.25e1
  variant carriers: 2434
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 2.75e1
  variant carriers: 1264
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 6.75e1
  variant carriers: 1501
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 1.75e1
  variant carriers: 1461
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 1187
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 8.25e1
  variant carriers: 1345
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 2.25e1
  variant carriers: 2229
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 2.5e0
  variant carriers: 179
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.5e0
  variant carriers: 573
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.25e1
  variant carriers: 919
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 4.75e1
  variant carriers: 2095
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 5.25e1
  variant carriers: 1968
hgvs: p.Thr1034Pro
num of homozygotes: 26581
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

3-122630325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630325
    reference: chr 3
allele count: 4
allele frequency: 4.109560893418538e-5
allele num: 97334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+13G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+13G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+13G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3098G>A
  hgvsp: ENSP00000195173.4:p.Arg1033Gln
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+13G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3104G>A
  hgvsp: ENSP00000417570.1:p.Arg1035Gln
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9550
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10111
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7440
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1033Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

3-122630326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630326
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630326
    reference: chr 3
allele count: 19
allele frequency: 1.951760693594116e-4
allele num: 97348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+12C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+12C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3103C>T
  hgvsp: ENSP00000417570.1:p.Arg1035Trp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3097C>T
  hgvsp: ENSP00000195173.4:p.Arg1033Trp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+12C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+12C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7623
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1033Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-122630331-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630331
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630331
    reference: chr 3
allele count: 4
allele frequency: 4.092322802422655e-5
allele num: 97744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3098G>T
  hgvsp: ENSP00000417570.1:p.Arg1033Ile
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+7G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3092G>T
  hgvsp: ENSP00000195173.4:p.Arg1031Ile
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+7G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+7G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+7G>T
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1031Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-122630333-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630333
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630333
    reference: chr 3
allele count: 1
allele frequency: 1.020387339033897e-5
allele num: 98002
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+5A>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+5A>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+5A>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+5A>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3096A>G
  hgvsp: ENST00000475244.1:c.3096A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3090A>G
  hgvsp: ENST00000195173.4:c.3090A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10117
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 5.25e1
  variant carriers: 0
hgvs: c.3253+5A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-122630335-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630335
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630335
    reference: chr 3
allele count: 1
allele frequency: 1.018910987936094e-5
allele num: 98144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+3A>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+3A>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3088A>T
  hgvsp: ENSP00000195173.4:p.Lys1030Ter
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+3A>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3094A>T
  hgvsp: ENSP00000417570.1:p.Lys1032Ter
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+3A>T
  variant of: http://identifiers.org/hgnc/10737
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys1030Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-122630337-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630337
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630337
    reference: chr 3
allele count: 2
allele frequency: 2.036701358479806e-5
allele num: 98198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3092G>T
  hgvsp: ENSP00000417570.1:p.Gly1031Val
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3091+1G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.228+1G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3091+1G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3086G>T
  hgvsp: ENSP00000195173.4:p.Gly1029Val
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3253+1G>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
hgvs: c.3253+1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-122630342-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630342
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630342
    reference: chr 3
allele count: 58
allele frequency: 5.869257235377454e-4
allele num: 98820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3081T>G
  hgvsp: ENSP00000195173.4:p.Cys1027Trp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.224T>G
  hgvsp: ENSP00000400828.1:p.Cys75Trp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3087T>G
  hgvsp: ENSP00000417570.1:p.Cys1029Trp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3087T>G
  hgvsp: ENSP00000350215.3:p.Cys1029Trp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3249T>G
  hgvsp: ENSP00000389588.2:p.Cys1083Trp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3087T>G
  hgvsp: ENSP00000377208.2:p.Cys1029Trp
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9535
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 12439
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 8434
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 6.75e1
  variant carriers: 3
hgvs: p.Cys1083Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-122630346-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630346
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630346
    reference: chr 3
allele count: 79578
allele frequency: 7.34683703238672e-1
allele num: 108316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3083A>G
  hgvsp: ENSP00000377208.2:p.Asp1028Gly
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3245A>G
  hgvsp: ENSP00000389588.2:p.Asp1082Gly
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.220A>G
  hgvsp: ENSP00000400828.1:p.Asp74Gly
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3083A>G
  hgvsp: ENSP00000417570.1:p.Asp1028Gly
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3077A>G
  hgvsp: ENSP00000195173.4:p.Asp1026Gly
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3083A>G
  hgvsp: ENSP00000350215.3:p.Asp1028Gly
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 4.25e1
  variant carriers: 3603
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.75e1
  variant carriers: 796
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 6.25e1
  variant carriers: 1079
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.5e0
  variant carriers: 370
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 7.5e0
  variant carriers: 2599
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 2.25e1
  variant carriers: 6192
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 5.75e1
  variant carriers: 1533
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 603
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 1.25e1
  variant carriers: 6429
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 5.25e1
  variant carriers: 2044
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 375
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.25e1
  variant carriers: 5103
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 1.75e1
  variant carriers: 7345
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 311
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 3.75e1
  variant carriers: 4503
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.75e1
  variant carriers: 2749
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 9.75e1
  variant carriers: 1363
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 2.75e1
  variant carriers: 5517
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 467
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 260
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.5e0
  variant carriers: 319
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 6.25e1
  variant carriers: 1555
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 8.75e1
  variant carriers: 946
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.5e0
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.25e1
  variant carriers: 805
genotype quality: GenotypeQuality
  all individuals: 32356
  bin: 9.75e1
  variant carriers: 32318
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 8.25e1
  variant carriers: 1438
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 1.75e1
  variant carriers: 607
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 2.25e1
  variant carriers: 929
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 2.75e1
  variant carriers: 709
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 6.75e1
  variant carriers: 1538
hgvs: p.Asp1082Gly
num of homozygotes: 29811
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-122630347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630347
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630347
    reference: chr 3
allele count: 3
allele frequency: 2.825603737331877e-5
allele num: 106172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3082G>A
  hgvsp: ENSP00000417570.1:p.Asp1028Asn
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3082G>A
  hgvsp: ENSP00000350215.3:p.Asp1028Asn
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3076G>A
  hgvsp: ENSP00000195173.4:p.Asp1026Asn
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3244G>A
  hgvsp: ENSP00000389588.2:p.Asp1082Asn
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3082G>A
  hgvsp: ENSP00000377208.2:p.Asp1028Asn
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.219G>A
  hgvsp: ENSP00000400828.1:p.Asp74Asn
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13132
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4625
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp1082Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-122630348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630348
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630348
    reference: chr 3
allele count: 8
allele frequency: 7.533949861563671e-5
allele num: 106186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3075C>T
  hgvsp: ENST00000195173.4:c.3075C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3081C>T
  hgvsp: ENST00000357599.3:c.3081C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.218C>T
  hgvsp: ENST00000451541.1:c.218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3081C>T
  hgvsp: ENST00000475244.1:c.3081C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3243C>T
  hgvsp: ENST00000451055.2:c.3243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3081C>T
  hgvsp: ENST00000393583.2:c.3081C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1081Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

3-122630351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630351
    reference: chr 3
allele count: 3
allele frequency: 2.818277468811063e-5
allele num: 106448
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3240C>T
  hgvsp: ENST00000451055.2:c.3240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3072C>T
  hgvsp: ENST00000195173.4:c.3072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3078C>T
  hgvsp: ENST00000475244.1:c.3078C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3078C>T
  hgvsp: ENST00000357599.3:c.3078C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.215C>T
  hgvsp: ENST00000451541.1:c.215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3078C>T
  hgvsp: ENST00000393583.2:c.3078C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13168
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6057
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1080Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-122630352-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630352
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630352
    reference: chr 3
allele count: 1
allele frequency: 9.400086480795623e-6
allele num: 106382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3071C>A
  hgvsp: ENSP00000195173.4:p.Ala1024Asp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3077C>A
  hgvsp: ENSP00000377208.2:p.Ala1026Asp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3077C>A
  hgvsp: ENSP00000417570.1:p.Ala1026Asp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3239C>A
  hgvsp: ENSP00000389588.2:p.Ala1080Asp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.214C>A
  hgvsp: ENSP00000400828.1:p.Ala72Asp
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3077C>A
  hgvsp: ENSP00000350215.3:p.Ala1026Asp
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1080Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

3-122630369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630369
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630369
    reference: chr 3
allele count: 6
allele frequency: 5.667327854916407e-5
allele num: 105870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3054C>T
  hgvsp: ENST00000195173.4:c.3054C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3060C>T
  hgvsp: ENST00000357599.3:c.3060C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.197C>T
  hgvsp: ENST00000451541.1:c.197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3222C>T
  hgvsp: ENST00000451055.2:c.3222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3060C>T
  hgvsp: ENST00000475244.1:c.3060C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3060C>T
  hgvsp: ENST00000393583.2:c.3060C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 22523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala1074Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-122630372-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630372
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630372
    reference: chr 3
allele count: 1190
allele frequency: 1.124487366053711e-2
allele num: 105826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3051A>G
  hgvsp: ENST00000195173.4:c.3051A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.194A>G
  hgvsp: ENST00000451541.1:c.194A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3057A>G
  hgvsp: ENST00000475244.1:c.3057A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3057A>G
  hgvsp: ENST00000357599.3:c.3057A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3057A>G
  hgvsp: ENST00000393583.2:c.3057A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3219A>G
  hgvsp: ENST00000451055.2:c.3219A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 1.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 14434
  bin: 2.25e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 2.75e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 3.25e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 7.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.75e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 9.75e1
  variant carriers: 1130
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 3.25e1
  variant carriers: 3
hgvs: p.Pro1073Pro
num of homozygotes: 14
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

3-122630378-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630378
    reference: chr 3
allele count: 1
allele frequency: 9.49721731532661e-6
allele num: 105294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3051C>G
  hgvsp: ENSP00000377208.2:p.Ile1017Met
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3051C>G
  hgvsp: ENSP00000350215.3:p.Ile1017Met
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3051C>G
  hgvsp: ENSP00000417570.1:p.Ile1017Met
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3045C>G
  hgvsp: ENSP00000195173.4:p.Ile1015Met
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3213C>G
  hgvsp: ENSP00000389588.2:p.Ile1071Met
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.188C>G
  hgvsp: ENSP00000400828.1:p.Ile63Met
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile1071Met
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

3-122630380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630380
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630380
    reference: chr 3
allele count: 2
allele frequency: 1.900526445825494e-5
allele num: 105234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3049A>G
  hgvsp: ENSP00000350215.3:p.Ile1017Val
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3211A>G
  hgvsp: ENSP00000389588.2:p.Ile1071Val
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3049A>G
  hgvsp: ENSP00000417570.1:p.Ile1017Val
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3049A>G
  hgvsp: ENSP00000377208.2:p.Ile1017Val
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.186A>G
  hgvsp: ENSP00000400828.1:p.Ile63Val
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3043A>G
  hgvsp: ENSP00000195173.4:p.Ile1015Val
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile1071Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

3-122630383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630383
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630383
    reference: chr 3
allele count: 1
allele frequency: 9.524535202682108e-6
allele num: 104992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-1G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-1G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-1G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-1G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-1G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-1G>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 2.75e1
  variant carriers: 0
hgvs: c.3209-1G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-122630385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630385
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630385
    reference: chr 3
allele count: 1
allele frequency: 9.536161122978334e-6
allele num: 104864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-3C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-3C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-3C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-3C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-3C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
hgvs: c.3209-3C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-122630400-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630400
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630400
    reference: chr 3
allele count: 1
allele frequency: 9.628531263841013e-6
allele num: 103858
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-18C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-18C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-18C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-18C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-18C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-18C>G
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11837
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

3-122630401-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630401
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630401
    reference: chr 3
allele count: 2
allele frequency: 1.927748004780815e-5
allele num: 103748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-19T>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-19T>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-19T>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-19T>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-19T>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-19T>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5066
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-122630406-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630406
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630406
    reference: chr 3
allele count: 1
allele frequency: 9.687481835971557e-6
allele num: 103226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-24C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-24C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-24C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-24C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-24C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-24C>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

3-122630415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630415
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630415
    reference: chr 3
allele count: 3
allele frequency: 2.96700688345597e-5
allele num: 101112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-33C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-33C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-33C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-33C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-33C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-33C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4274
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/3-122630416-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630416
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630416
    reference: chr 3
allele count: 2
allele frequency: 1.988822815775343e-5
allele num: 100562
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-34G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-34G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-34G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-34G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-34G>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-34G>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

3-122630416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630416
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630416
    reference: chr 3
allele count: 6
allele frequency: 5.966468447326028e-5
allele num: 100562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-34G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-34G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-34G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-34G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-34G>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14076
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

3-122630417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630417
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630417
    reference: chr 3
allele count: 1
allele frequency: 1.009978588453925e-5
allele num: 99012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-35C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-35C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-35C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-35C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-35C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-35C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

3-122630419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630419
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630419
    reference: chr 3
allele count: 1
allele frequency: 1.007475467972355e-5
allele num: 99258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-37T>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-37T>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-37T>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-37T>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-37T>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-37T>C
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-122630422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630422
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630422
    reference: chr 3
allele count: 6
allele frequency: 6.087538808059901e-5
allele num: 98562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-40G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-40G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-40G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-40G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-40G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-40G>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13638
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12601
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-122630423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630423
    reference: chr 3
allele count: 11
allele frequency: 1.124215604112585e-4
allele num: 97846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-41C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-41C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-41C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-41C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-41C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-41C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13413
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

3-122630427-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630427
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630427
    reference: chr 3
allele count: 1
allele frequency: 1.025241444360147e-5
allele num: 97538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-45C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-45C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-45C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-45C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-45C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-45C>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

3-122630429-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630429
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630430
    reference: chr 3
allele count: 1
allele frequency: 1.034425686858656e-5
allele num: 96672
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-48dupC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-48dupC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-48dupC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-48dupC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-48dupC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-48dupC
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-122630429-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630429
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630428
    reference: chr 3
allele count: 1
allele frequency: 1.034425686858656e-5
allele num: 96672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-48delC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-48delC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-48delC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-48delC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-48delC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-48delC
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: AG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-122630433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630433
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630433
    reference: chr 3
allele count: 1
allele frequency: 1.053940684218292e-5
allele num: 94882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3041-51C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3047-51C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3209-51C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3047-51C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3047-51C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.184-51C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

3-122630725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630725
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630725
    reference: chr 3
allele count: 1
allele frequency: 1.140406897180914e-5
allele num: 87688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+42C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+42C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+42C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+42C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+42C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+42C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-122630740-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630740
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630740
    reference: chr 3
allele count: 1
allele frequency: 1.111753457553253e-5
allele num: 89948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+27A>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+27A>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+27A>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+27A>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+27A>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+27A>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

3-122630740-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630740
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630741
    reference: chr 3
allele count: 8
allele frequency: 8.894027660426023e-5
allele num: 89948
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+26dupC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+26dupC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+26dupC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+26dupC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+26dupC
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+26dupC
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-122630742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630742
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630742
    reference: chr 3
allele count: 1
allele frequency: 1.110050396287992e-5
allele num: 90086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+25G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+25G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+25G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+25G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+25G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+25G>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19733
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

3-122630743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630743
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630743
    reference: chr 3
allele count: 2
allele frequency: 2.210286674181641e-5
allele num: 90486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+24C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+24C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+24C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+24C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+24C>T
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+24C>T
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19779
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

3-122630744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630744
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630744
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 90946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+23G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+23G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+23G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+23G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+23G>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+23G>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

3-122630746-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630746
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630746
    reference: chr 3
allele count: 10
allele frequency: 1.087500271875068e-4
allele num: 91954
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+21C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+21C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+21C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+21C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+21C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+21C>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13224
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11666
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21838
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14598
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-122630757-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630757
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630757
    reference: chr 3
allele count: 1
allele frequency: 1.04606887317461e-5
allele num: 95596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+10C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+10C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+10C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+10C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+10C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+10C>G
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25307
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS

3-122630758-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630758
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630758
    reference: chr 3
allele count: 1
allele frequency: 1.042796362726287e-5
allele num: 95896
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+9C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+9C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+9C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+9C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+9C>G
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+9C>G
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25222
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-122630759-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630759
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630759
    reference: chr 3
allele count: 3
allele frequency: 3.119930113565456e-5
allele num: 96156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+8C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+8C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+8C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+8C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+8C>A
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+8C>A
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
hgvs: c.3208+8C>A
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS

3-122630760-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630760
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630760
    reference: chr 3
allele count: 4
allele frequency: 4.216207100092756e-5
allele num: 94872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183+7A>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046+7A>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208+7A>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046+7A>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046+7A>C
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040+7A>C
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24940
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8433
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 3.25e1
  variant carriers: 0
hgvs: c.3208+7A>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-122630767-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630767
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630767
    reference: chr 3
allele count: 1
allele frequency: 1.008572869389813e-5
allele num: 99150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183G>T
  hgvsp: ENSP00000400828.1:p.Val62Phe
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208G>T
  hgvsp: ENSP00000389588.2:p.Val1070Phe
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046G>T
  hgvsp: ENSP00000417570.1:p.Val1016Phe
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040G>T
  hgvsp: ENSP00000195173.4:p.Val1014Phe
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046G>T
  hgvsp: ENSP00000350215.3:p.Val1016Phe
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046G>T
  hgvsp: ENSP00000377208.2:p.Val1016Phe
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val1070Phe
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-122630767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630767
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630767
    reference: chr 3
allele count: 2
allele frequency: 2.017145738779627e-5
allele num: 99150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3046G>A
  hgvsp: ENSP00000417570.1:p.Val1016Ile
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.183G>A
  hgvsp: ENSP00000400828.1:p.Val62Ile
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3046G>A
  hgvsp: ENSP00000350215.3:p.Val1016Ile
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3046G>A
  hgvsp: ENSP00000377208.2:p.Val1016Ile
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3208G>A
  hgvsp: ENSP00000389588.2:p.Val1070Ile
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3040G>A
  hgvsp: ENSP00000195173.4:p.Val1014Ile
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1070Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

3-122630768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630768
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630768
    reference: chr 3
allele count: 2
allele frequency: 2.004650789832411e-5
allele num: 99768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3045C>T
  hgvsp: ENST00000357599.3:c.3045C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3039C>T
  hgvsp: ENST00000195173.4:c.3039C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.182C>T
  hgvsp: ENST00000451541.1:c.182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3045C>T
  hgvsp: ENST00000475244.1:c.3045C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3207C>T
  hgvsp: ENST00000451055.2:c.3207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3045C>T
  hgvsp: ENST00000393583.2:c.3045C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
hgvs: c.3207C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

3-122630768-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122630768
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 122630768
    reference: chr 3
allele count: 1
allele frequency: 1.002325394916206e-5
allele num: 99768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000389588
  ensembl transcript: ENST00000451055
  gene symbol: SEMA5B
  hgvsc: ENST00000451055.2:c.3207C>A
  hgvsp: ENST00000451055.2:c.3207C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000400828
  ensembl transcript: ENST00000451541
  gene symbol: SEMA5B
  hgvsc: ENST00000451541.1:c.182C>A
  hgvsp: ENST00000451541.1:c.182C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000417570
  ensembl transcript: ENST00000475244
  gene symbol: SEMA5B
  hgvsc: ENST00000475244.1:c.3045C>A
  hgvsp: ENST00000475244.1:c.3045C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000195173
  ensembl transcript: ENST00000195173
  gene symbol: SEMA5B
  hgvsc: ENST00000195173.4:c.3039C>A
  hgvsp: ENST00000195173.4:c.3039C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000350215
  ensembl transcript: ENST00000357599
  gene symbol: SEMA5B
  hgvsc: ENST00000357599.3:c.3045C>A
  hgvsp: ENST00000357599.3:c.3045C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000082684
  ensembl protein: ENSP00000377208
  ensembl transcript: ENST00000393583
  gene symbol: SEMA5B
  hgvsc: ENST00000393583.2:c.3045C>A
  hgvsp: ENST00000393583.2:c.3045C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10737
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
hgvs: c.3207C>A
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 125
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15397
bin: 7.5e0
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.253509145044662e-4
allele num: 4702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.97015e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.388e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.18e0

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

GenotypeQuality
all individuals: 273
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.480000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.79e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.148e0

QD
type: SiteQuality
SIO_000300: 9.02e0

DP
type: SiteQuality
SIO_000300: 1.99176e5

GenotypeQuality
all individuals: 137
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.011263073209976e-4
allele num: 4972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.092e1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.52e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

DP
type: SiteQuality
SIO_000300: 1.99018e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.413e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3712
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 137
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.916443081640475e-4
allele num: 5218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1386
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.65e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.01103e5

QD
type: SiteQuality
SIO_000300: 9.01e0

GenotypeQuality
all individuals: 573
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 2.865329512893983e-3
allele num: 1396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-2

FS
type: SiteQuality
SIO_000300: 2.529e0

VQSLOD
type: SiteQuality
SIO_000300: -3.857e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

DP
type: SiteQuality
SIO_000300: 2.02677e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.027e1

GenotypeQuality
all individuals: 19515
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 452
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5292
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.780626780626781e-4
allele num: 5616
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.22e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.384e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.562e1

DP
type: SiteQuality
SIO_000300: 2.25873e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.903e0

GenotypeQuality
all individuals: 4318
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22174
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 2.47941e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.17e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.714e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 22549
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 576
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.56405e5

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.923e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.344e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.27e-2

GenotypeQuality
all individuals: 485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.95862e5

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.17e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.363e1

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26014
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6868
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.868e0

DP
type: SiteQuality
SIO_000300: 3.01603e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.12e-2

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeQuality
all individuals: 5559
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 1.588e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.26795e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.93e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 28055
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9936
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 9.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.143641354071363e-4
allele num: 8744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.057e0

MQRankSum
type: SiteQuality
SIO_000300: -1.964e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.659e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.17e-2

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 4.06701e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

GenotypeQuality
all individuals: 27392
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11215
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9062
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.253761283851555e-4
allele num: 7976
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.96e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.767e0

DP
type: SiteQuality
SIO_000300: 4.2577e5

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
all individuals: 597
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6273
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.21654501216545e-3
allele num: 3288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 4.71111e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
all individuals: 16555
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 263
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6560
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1502
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 1.147446930579461e-3
allele num: 3486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 20
allele frequency: 1.078748651564186e-2
allele num: 1854
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.336248785228377e-3
allele num: 8232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.92181e5

QD
type: SiteQuality
SIO_000300: 1.281e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.83e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

GenotypeQuality
all individuals: 187
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14036
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.88e1

DP
type: SiteQuality
SIO_000300: 5.74286e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.64e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.034e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1009
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15538
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.112099644128114e-4
allele num: 8992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 1.844e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.12e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.748e-1

MQ
type: SiteQuality
SIO_000300: 5.569e1

DP
type: SiteQuality
SIO_000300: 6.16243e5

GenotypeQuality
all individuals: 547
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

European (Finnish)
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: 1018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 2.216124947235121e-3
allele num: 9476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20288
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.931e0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.801e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 6.84283e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1229
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 199
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 722
bin: 9.75e1
variant carriers: 146

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3836
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.752293577981652e-3
allele num: 1090
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.52162467092892e-4
allele num: 5318
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.14726741760534e-3
allele num: 9588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 1.731160896130346e-2
allele num: 982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 112
allele frequency: 5.265137269650244e-3
allele num: 21272
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

DP
type: SiteQuality
SIO_000300: 7.00732e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 783
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 893
bin: 7.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1126
bin: 9.75e1
variant carriers: 541

GenotypeQuality
all individuals: 1358
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 21

GenotypeQuality
all individuals: 588
bin: 8.25e1
variant carriers: 23

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 16

Latino
type: Population
allele count: 21
allele frequency: 1.770657672849916e-2
allele num: 1186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1058
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 2.013422818791946e-2
allele num: 298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 417
allele frequency: 1.822393147452146e-2
allele num: 22882
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3934
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 3.133063029856248e-3
allele num: 5426
num of homozygotes: 0

South Asian
type: Population
allele count: 74
allele frequency: 7.663628831814416e-3
allele num: 9656
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.237e1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

FS
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 7.27567e5

GenotypeQuality
all individuals: 421
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7795
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24710
bin: 2.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.0827197921178e-4
allele num: 27708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4260
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.615e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.702e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 7.8966e5

QD
type: SiteQuality
SIO_000300: 6.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 2555
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13914
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.347417840375587e-4
allele num: 4260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27708
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.702e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 7.8966e5

FS
type: SiteQuality
SIO_000300: 2.615e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

QD
type: SiteQuality
SIO_000300: 6.44e0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 324
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.348961821835231e-4
allele num: 5972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28248
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 7.95855e5

VQSLOD
type: SiteQuality
SIO_000300: -1.197e0

QD
type: SiteQuality
SIO_000300: 2.926e1

GenotypeQuality
all individuals: 5825
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 981
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.132243312660528e-5
allele num: 31926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 8.47932e5

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.395e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.384e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

GenotypeQuality
all individuals: 486
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1296
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 283
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15757
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.225865767698437e-4
allele num: 32630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.199736031676199e-4
allele num: 4546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.02e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 8.58952e5

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 1168

GenotypeQuality
all individuals: 1565
bin: 7.75e1
variant carriers: 1448

GenotypeQuality
all individuals: 2440
bin: 3.75e1
variant carriers: 2336

GenotypeQuality
all individuals: 899
bin: 8.75e1
variant carriers: 879

GenotypeQuality
all individuals: 26343
bin: 9.75e1
variant carriers: 26305

GenotypeQuality
all individuals: 1101
bin: 5.75e1
variant carriers: 1049

GenotypeQuality
all individuals: 684
bin: 1.25e1
variant carriers: 609

GenotypeQuality
all individuals: 3909
bin: 6.25e1
variant carriers: 1702

African
type: Population
allele count: 5293
allele frequency: 5.903412893151907e-1
allele num: 8966
num of homozygotes: 1496

Other
type: Population
allele count: 524
allele frequency: 7.751479289940828e-1
allele num: 676
num of homozygotes: 199

Latino
type: Population
allele count: 3910
allele frequency: 5.563460443938532e-1
allele num: 7028
num of homozygotes: 909

European (Finnish)
type: Population
allele count: 3402
allele frequency: 7.376409366869038e-1
allele num: 4612
num of homozygotes: 1213

South Asian
type: Population
allele count: 9626
allele frequency: 7.362704604558666e-1
allele num: 13074
num of homozygotes: 3504

East Asian
type: Population
allele count: 2340
allele frequency: 3.732057416267943e-1
allele num: 6270
num of homozygotes: 349

European (Non-Finnish)
type: Population
allele count: 46272
allele frequency: 8.247246283819912e-1
allele num: 56106
num of homozygotes: 18911

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 2.653e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.377e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 1.652089e6

FS
type: SiteQuality
SIO_000300: 1.879e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

GenotypeQuality
all individuals: 1896
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3256
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.112842198976185e-4
allele num: 8986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.332954101041704e-5
allele num: 56254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7436
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 3.602e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

DP
type: SiteQuality
SIO_000300: 1.499043e6

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

GenotypeQuality
all individuals: 503
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10118
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.778789711480309e-5
allele num: 56218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.541307028360049e-4
allele num: 6488
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.887630468576505e-3
allele num: 9006
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.500978e6

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 9105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10115
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.105460977227504e-4
allele num: 9046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.325569835972449e-5
allele num: 56332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13002
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

FS
type: SiteQuality
SIO_000300: 2.867e0

DP
type: SiteQuality
SIO_000300: 1.508167e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.489e0

QD
type: SiteQuality
SIO_000300: 1.05e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.784e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

GenotypeQuality
all individuals: 8196
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3817
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.102779003087781e-4
allele num: 9068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.325e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

MQRankSum
type: SiteQuality
SIO_000300: -1.073e0

DP
type: SiteQuality
SIO_000300: 1.512471e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

MQ
type: SiteQuality
SIO_000300: 5.889e1

GenotypeQuality
all individuals: 2642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2147
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3340
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.101079057476327e-4
allele num: 9082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.062e0

QD
type: SiteQuality
SIO_000300: 1.242e1

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

DP
type: SiteQuality
SIO_000300: 1.516497e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.011e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

GenotypeQuality
all individuals: 1093
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8096
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.5458478122119e-5
allele num: 56404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13028
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 1.520206e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

GenotypeQuality
all individuals: 833
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1112
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4314
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3303
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1566
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 10007
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1224
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1660
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.164502164502165e-4
allele num: 4620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 41
allele frequency: 7.257150948739734e-4
allele num: 56496
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.756311745334797e-3
allele num: 9110
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.54216e2

VQSLOD
type: SiteQuality
SIO_000300: -1.106e2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.864e0

MQ
type: SiteQuality
SIO_000300: 5.746e1

MQRankSum
type: SiteQuality
SIO_000300: -1.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.208e0

DP
type: SiteQuality
SIO_000300: 1.541799e6

QD
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeQuality
all individuals: 957
bin: 5.75e1
variant carriers: 878

GenotypeQuality
all individuals: 1664
bin: 3.25e1
variant carriers: 1536

GenotypeQuality
all individuals: 964
bin: 4.25e1
variant carriers: 920

GenotypeQuality
all individuals: 1908
bin: 4.75e1
variant carriers: 1843

GenotypeQuality
all individuals: 1865
bin: 3.75e1
variant carriers: 1774

GenotypeQuality
all individuals: 372
bin: 1.25e1
variant carriers: 325

GenotypeQuality
all individuals: 1819
bin: 5.25e1
variant carriers: 1741

GenotypeQuality
all individuals: 1527
bin: 9.25e1
variant carriers: 1495

GenotypeQuality
all individuals: 1548
bin: 7.75e1
variant carriers: 1423

South Asian
type: Population
allele count: 10583
allele frequency: 7.392428052528639e-1
allele num: 14316
num of homozygotes: 3872

Latino
type: Population
allele count: 5061
allele frequency: 5.433755636675972e-1
allele num: 9314
num of homozygotes: 1249

African
type: Population
allele count: 5620
allele frequency: 5.876202425763279e-1
allele num: 9564
num of homozygotes: 1602

East Asian
type: Population
allele count: 2648
allele frequency: 3.664544699695544e-1
allele num: 7226
num of homozygotes: 403

European (Finnish)
type: Population
allele count: 4152
allele frequency: 7.395796223726399e-1
allele num: 5614
num of homozygotes: 1493

European (Non-Finnish)
type: Population
allele count: 50931
allele frequency: 8.277694708100377e-1
allele num: 61528
num of homozygotes: 20969

Other
type: Population
allele count: 583
allele frequency: 7.73209549071618e-1
allele num: 754
num of homozygotes: 223

DP
type: SiteQuality
SIO_000300: 1.878828e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.303e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 1.769e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 2.643e1

GenotypeQuality
all individuals: 1908
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19134
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2541
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7953
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.961794184777215e-5
allele num: 60462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.896e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

FS
type: SiteQuality
SIO_000300: 1.793e0

DP
type: SiteQuality
SIO_000300: 1.45937e6

MQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

GenotypeQuality
all individuals: 2141
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 592
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4613
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1090
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.324284058930641e-4
allele num: 60410
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

FS
type: SiteQuality
SIO_000300: 7.008e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.892e1

DP
type: SiteQuality
SIO_000300: 1.460702e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 1.073e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.252999999999999e-1

GenotypeQuality
all individuals: 923
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4599
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 21382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8303
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.958022079724995e-5
allele num: 60508
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.484e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.006e0

DP
type: SiteQuality
SIO_000300: 1.460963e6

GenotypeQuality
all individuals: 280
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8345
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.653493832468005e-5
allele num: 60478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

FS
type: SiteQuality
SIO_000300: 1.0694e1

DP
type: SiteQuality
SIO_000300: 1.461164e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.04e-1

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.760411032990806e-4
allele num: 7396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.664115023630433e-5
allele num: 60092
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

DP
type: SiteQuality
SIO_000300: 1.452367e6

QD
type: SiteQuality
SIO_000300: 1.238e1

GenotypeQuality
all individuals: 430
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 22628
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 5545
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 917
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2219
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 9551
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2115
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 699
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1015
bin: 9.25e1
variant carriers: 9

African
type: Population
allele count: 23
allele frequency: 2.436440677966102e-3
allele num: 9440
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.621621621621622e-2
allele num: 740
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.701242571582928e-4
allele num: 7404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 861
allele frequency: 1.432946110574843e-2
allele num: 60086
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 11
allele frequency: 2.072343632253203e-3
allele num: 5308
num of homozygotes: 0

Latino
type: Population
allele count: 116
allele frequency: 1.212121212121212e-2
allele num: 9570
num of homozygotes: 3

South Asian
type: Population
allele count: 165
allele frequency: 1.242657026660642e-2
allele num: 13278
num of homozygotes: 3

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.99e0

DP
type: SiteQuality
SIO_000300: 1.454573e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.21e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

GenotypeQuality
all individuals: 22899
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4366
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 592
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9416
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.664009809932556e-5
allele num: 13048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.433207e6

MQ
type: SiteQuality
SIO_000300: 5.828e1

VQSLOD
type: SiteQuality
SIO_000300: -1.916e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 1.003e0

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

GenotypeQuality
all individuals: 709
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5276
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.062699256110521e-4
allele num: 9410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.671793500066872e-5
allele num: 59816
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.748e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.066e0

DP
type: SiteQuality
SIO_000300: 1.431025e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.53e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 2.411e1

GenotypeQuality
all individuals: 2159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1009
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.674256630056255e-5
allele num: 59728
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7394
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.281e0

DP
type: SiteQuality
SIO_000300: 1.42645e6

FS
type: SiteQuality
SIO_000300: 6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

GenotypeQuality
all individuals: 1817
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11119
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23035
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5473
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.766387076731904e-5
allele num: 12876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.423076e6

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 1.047e0

QD
type: SiteQuality
SIO_000300: 1.279e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 694
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4356
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5087
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.905487804878049e-4
allele num: 5248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59278
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.604e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 7.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.37936e6

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

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

GenotypeQuality
all individuals: 4356
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.134471718249733e-4
allele num: 9370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59258
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.372318e6

VQSLOD
type: SiteQuality
SIO_000300: -5.774e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

FS
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 1869
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13554
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3834
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17898
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1002
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12142
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.356483993488877e-4
allele num: 7372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.158e0

QD
type: SiteQuality
SIO_000300: 7.04e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e0

MQ
type: SiteQuality
SIO_000300: 5.682e1

VQSLOD
type: SiteQuality
SIO_000300: -1.931e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 1.352854e6

GenotypeQuality
all individuals: 4216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4350
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 825
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.433358511295749e-5
allele num: 58252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.091703056768559e-4
allele num: 9160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.697e0

QD
type: SiteQuality
SIO_000300: 1.086e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

FS
type: SiteQuality
SIO_000300: 2.977e0

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 1.29116e6

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5235
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.097935880544576e-4
allele num: 9108
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0827197921178e-4
allele num: 9236
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.290433e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

QD
type: SiteQuality
SIO_000300: 1.051e1

GenotypeQuality
all individuals: 1520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4351
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5235
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.195871761089152e-4
allele num: 9108
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.952551477170994e-5
allele num: 11170
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.432664756446991e-3
allele num: 698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.445543189883885e-5
allele num: 58046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 1.290433e6

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

QD
type: SiteQuality
SIO_000300: 1.051e1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

GenotypeQuality
all individuals: 9516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8870
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.264406151565684e-5
allele num: 10794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

QD
type: SiteQuality
SIO_000300: 4.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.113e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

DP
type: SiteQuality
SIO_000300: 1.26766e6

GenotypeQuality
all individuals: 4229
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3968
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.27299703264095e-5
allele num: 10784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57528
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.263676e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

QD
type: SiteQuality
SIO_000300: 1.405e1

FS
type: SiteQuality
SIO_000300: 2.688e0

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 1587
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4203
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.491010647582475e-5
allele num: 57290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.508566275924256e-4
allele num: 8872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 1.257495e6

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.923e0

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

GenotypeQuality
all individuals: 526
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4352
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1757
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4221
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9157
bin: 6.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10418
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.578754578754579e-4
allele num: 8736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.229321063538337e-4
allele num: 56942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.16e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

FS
type: SiteQuality
SIO_000300: 3.726e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

DP
type: SiteQuality
SIO_000300: 1.249098e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.361e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

GenotypeQuality
all individuals: 3285
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4342
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.761307594758349e-5
allele num: 56776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

MQ
type: SiteQuality
SIO_000300: 5.765e1

DP
type: SiteQuality
SIO_000300: 1.241633e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.981000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

GenotypeQuality
all individuals: 1331
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5651
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.424501424501424e-4
allele num: 7020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4876
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.079e1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.238489e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

FS
type: SiteQuality
SIO_000300: 1.349e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.085e1

GenotypeQuality
all individuals: 616
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11668
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.424501424501424e-4
allele num: 7020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

FS
type: SiteQuality
SIO_000300: 1.349e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.238489e6

MQ
type: SiteQuality
SIO_000300: 6.085e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.079e1

GenotypeQuality
all individuals: 1369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4348
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1637
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.216249087813184e-4
allele num: 8222
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.468e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.265e0

DP
type: SiteQuality
SIO_000300: 1.234186e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

FS
type: SiteQuality
SIO_000300: 1.442e0

QD
type: SiteQuality
SIO_000300: 2.347e1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.58e-1

GenotypeQuality
all individuals: 360
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13201
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4767
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.898109482954977e-5
allele num: 52684
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.243e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 9.31774e5

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 6.021e0

VQSLOD
type: SiteQuality
SIO_000300: -2.157e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.637e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 2.079e1

GenotypeQuality
all individuals: 4361
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.412030499858797e-4
allele num: 7082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

FS
type: SiteQuality
SIO_000300: 1.343e0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

DP
type: SiteQuality
SIO_000300: 1.009177e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

GenotypeQuality
all individuals: 4361
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5550
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 9.930486593843098e-4
allele num: 8056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4102
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.301e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

FS
type: SiteQuality
SIO_000300: 1.343e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 1.009177e6

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.857424124224525e-5
allele num: 53838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

QD
type: SiteQuality
SIO_000300: 6.54e0

VQSLOD
type: SiteQuality
SIO_000300: -6.887e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.683e0

DP
type: SiteQuality
SIO_000300: 1.02264e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.076e0

GenotypeQuality
all individuals: 904
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.852606617510838e-5
allele num: 53978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7106
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.214771622934888e-4
allele num: 8232
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.022e0

VQSLOD
type: SiteQuality
SIO_000300: 3.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
SIO_000300: 9.59e0

DP
type: SiteQuality
SIO_000300: 1.030093e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 219
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.326e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

MQRankSum
type: SiteQuality
SIO_000300: -1.159e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.037754e6

GenotypeQuality
all individuals: 3848
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 712
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 776
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.187366421277606e-4
allele num: 8422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4178
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.104565537555228e-3
allele num: 8148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 2.682e0

DP
type: SiteQuality
SIO_000300: 1.05697e6

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.225e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.009e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13550
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.773615692951651e-5
allele num: 56382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

DP
type: SiteQuality
SIO_000300: 1.119479e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

QD
type: SiteQuality
SIO_000300: 9.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
all individuals: 3147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13388
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 762
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.768847065482719e-5
allele num: 56534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4360
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -8.312e-1

FS
type: SiteQuality
SIO_000300: 1.232e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

QD
type: SiteQuality
SIO_000300: 7.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.121048e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

GenotypeQuality
all individuals: 737
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3347
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 600
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.564638783269962e-4
allele num: 8416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.124723e6

FS
type: SiteQuality
SIO_000300: 7.697e0

GenotypeQuality
all individuals: 875
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1399
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4146
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.345895020188425e-4
allele num: 7430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.367302393816867e-5
allele num: 55894
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

DP
type: SiteQuality
SIO_000300: 1.129915e6

VQSLOD
type: SiteQuality
SIO_000300: -1.54e2

QD
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.152e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 1.82681e2

MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

GenotypeQuality
all individuals: 732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.729684851420071e-5
allele num: 57814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

DP
type: SiteQuality
SIO_000300: 1.168343e6

QD
type: SiteQuality
SIO_000300: 1.033e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 30230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10534
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.324500232450023e-4
allele num: 8604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.168343e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.033e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 293
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.304801670146138e-4
allele num: 7664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.724732666436702e-5
allele num: 57980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.174782e6

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 788
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.5e0
variant carriers: 0