X-49054268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054268
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054268
    reference: chr 0
allele count: 2
allele frequency: 3.170828378913992e-5
allele num: 63075
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1270G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1159G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1159G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.133G>A
  hgvsp: ENSP00000263233.4:p.Gly45Ser
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.133G>A
  hgvsp: ENSP00000420774.1:p.Gly45Ser
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.133G>A
  hgvsp: ENSP00000418987.1:p.Gly45Ser
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1159G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.142G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.133G>A
  hgvsp: ENSP00000418169.1:p.Gly45Ser
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly45Ser
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: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

X-49054269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054269
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054269
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 63124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1158C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1158C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1158C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.141C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.132C>T
  hgvsp: ENST00000263233.4:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.132C>T
  hgvsp: ENST00000479808.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.132C>T
  hgvsp: ENST00000466635.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1269C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.132C>T
  hgvsp: ENST00000469389.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8370
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys44Cys
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

X-49054283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054283
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054283
    reference: chr 0
allele count: 2
allele frequency: 3.105541839412431e-5
allele num: 64401
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.118G>A
  hgvsp: ENSP00000418987.1:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.127G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.118G>A
  hgvsp: ENSP00000263233.4:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1144G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1144G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1144G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.118G>A
  hgvsp: ENSP00000420774.1:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.118G>A
  hgvsp: ENSP00000418169.1:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1255G>A
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19482
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala40Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

X-49054293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054293
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054293
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 65218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.117C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.108C>T
  hgvsp: ENST00000263233.4:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1134C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1134C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.108C>T
  hgvsp: ENST00000479808.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1134C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.108C>T
  hgvsp: ENST00000466635.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1245C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.108C>T
  hgvsp: ENST00000469389.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe36Phe
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

X-49054302-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054302
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054302
    reference: chr 0
allele count: 6
allele frequency: 9.138122724988197e-5
allele num: 65659
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1125C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1125C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1125C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.103-4C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1236C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.112-4C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.103-4C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.103-4C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.103-4C>T
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9632
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 3.25e1
  variant carriers: 0
hgvs: c.103-4C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD

X-49054311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054311
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054311
    reference: chr 0
allele count: 3
allele frequency: 4.559062656717779e-5
allele num: 65803
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.103-13C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.103-13C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.103-13C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.112-13C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1116C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1116C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.103-13C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1227C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1116C>T
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18107
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20736
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

X-49054318-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054318
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054318
    reference: chr 0
allele count: 1
allele frequency: 1.518672073139247e-5
allele num: 65847
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1220C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.103-20C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.103-20C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.103-20C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.112-20C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1109C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.103-20C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1109C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1109C>A
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20405
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

X-49054327-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054327
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054327
    reference: chr 0
allele count: 1
allele frequency: 1.515679706564409e-5
allele num: 65977
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1100T>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1100T>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1100T>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1211T>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.103-29T>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.103-29T>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.103-29T>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.103-29T>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.112-29T>C
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20076
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

X-49054330-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054330
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054330
    reference: chr 0
allele count: 1
allele frequency: 1.521190179196203e-5
allele num: 65738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1208C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.112-32C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1097C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.103-32C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.103-32C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1097C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.103-32C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.103-32C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1097C>T
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-49054331-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054331
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054331
    reference: chr 0
allele count: 1
allele frequency: 1.517059332190482e-5
allele num: 65917
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.103-33T>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.112-33T>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.103-33T>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1207T>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1096T>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1096T>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.103-33T>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.103-33T>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1096T>G
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14525
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

X-49054340-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049054340
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049054340
    reference: chr 0
allele count: 2
allele frequency: 3.065556935056176e-5
allele num: 65241
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.112-42C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+1087C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.103-42C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+1087C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.1198C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.103-42C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.103-42C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.103-42C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+1087C>A
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11826
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

X-49055391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055391
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055391
    reference: chr 0
allele count: 1
allele frequency: 1.385636492122657e-5
allele num: 72169
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+36G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.102+36G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.102+36G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.147G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.102+36G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.111+36G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.102+36G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+36G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+36G>A
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

X-49055402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055402
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055402
    reference: chr 0
allele count: 1
allele frequency: 1.35556459265284e-5
allele num: 73770
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.102+25G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.111+25G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.136G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.102+25G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.102+25G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.102+25G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+25G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+25G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+25G>A
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

X-49055409-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055409
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055409
    reference: chr 0
allele count: 1
allele frequency: 1.329168605037549e-5
allele num: 75235
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.129T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.111+18T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+18T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+18T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.102+18T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+18T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.102+18T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.102+18T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.102+18T>A
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

X-49055410-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055410
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055410
    reference: chr 0
allele count: 1
allele frequency: 1.327756754962491e-5
allele num: 75315
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.102+17C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.128C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.102+17C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.102+17C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+17C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.102+17C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+17C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+17C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.111+17C>A
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21296
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

X-49055413-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055413
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055413
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 75802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.102+14G>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.111+14G>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.102+14G>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.125G>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+14G>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.102+14G>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.102+14G>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+14G>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+14G>C
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11462
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

X-49055413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055413
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055413
    reference: chr 0
allele count: 1
allele frequency: 1.319226405635735e-5
allele num: 75802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-128+14G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.102+14G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.102+14G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.111+14G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.92+14G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.125G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.102+14G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.102+14G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.102+14G>A
  variant of: http://identifiers.org/hgnc/11506
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22175
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

X-49055439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055439
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055439
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 78944
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.15C>T
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.80G>A
  hgvsp: ENST00000472598.1:c.80G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-140G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.90G>A
  hgvsp: ENST00000466635.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.99G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.90G>A
  hgvsp: ENST00000376303.2:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.90G>A
  hgvsp: ENST00000469389.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.90G>A
  hgvsp: ENST00000263233.4:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.90G>A
  hgvsp: ENST00000479808.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.99G>A
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys30Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-49055464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055464
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055464
    reference: chr 0
allele count: 1
allele frequency: 1.277400235041643e-5
allele num: 78284
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.40A>G
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.65T>C
  hgvsp: ENSP00000420774.1:p.Val22Ala
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.65T>C
  hgvsp: ENSP00000418169.1:p.Val22Ala
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.65T>C
  hgvsp: ENSP00000418987.1:p.Val22Ala
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.65T>C
  hgvsp: ENSP00000263233.4:p.Val22Ala
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.74T>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.55T>C
  hgvsp: ENSP00000418387.1:p.Val19Ala
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.65T>C
  hgvsp: ENSP00000365480.2:p.Val22Ala
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.74T>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-165T>C
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11312
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val22Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

X-49055470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055470
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055470
    reference: chr 0
allele count: 2
allele frequency: 2.56960415248031e-5
allele num: 77833
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.49G>A
  hgvsp: ENSP00000418387.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.68G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.59G>A
  hgvsp: ENSP00000263233.4:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.46C>T
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.59G>A
  hgvsp: ENSP00000365480.2:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.59G>A
  hgvsp: ENSP00000418987.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.59G>A
  hgvsp: ENSP00000420774.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.59G>A
  hgvsp: ENSP00000418169.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.68G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-171G>A
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22923
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg20Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

X-49055471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055471
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055471
    reference: chr 0
allele count: 2
allele frequency: 2.569571138576972e-5
allele num: 77834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.67C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.58C>T
  hgvsp: ENSP00000420774.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.48C>T
  hgvsp: ENSP00000418387.1:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.58C>T
  hgvsp: ENSP00000418169.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.67C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.47G>A
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-172C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.58C>T
  hgvsp: ENSP00000263233.4:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.58C>T
  hgvsp: ENSP00000418987.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.58C>T
  hgvsp: ENSP00000365480.2:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg20Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

X-49055475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055475
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055475
    reference: chr 0
allele count: 3
allele frequency: 3.876119229427497e-5
allele num: 77397
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.63G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-176G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.54G>A
  hgvsp: ENST00000479808.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.51C>T
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.54G>A
  hgvsp: ENST00000263233.4:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.54G>A
  hgvsp: ENST00000376303.2:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.54G>A
  hgvsp: ENST00000466635.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.54G>A
  hgvsp: ENST00000469389.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.44G>A
  hgvsp: ENST00000472598.1:c.44G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.63G>A
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln18Gln
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

X-49055513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055513
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055513
    reference: chr 0
allele count: 1
allele frequency: 1.419647927314026e-5
allele num: 70440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.46-21C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.27-21C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.37-21C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.89G>A
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-193-21C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.37-21C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.37-21C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.37-21C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.37-21C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.46-21C>T
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS

X-49055519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055519
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055519
    reference: chr 0
allele count: 2
allele frequency: 2.895277801905093e-5
allele num: 69078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.37-27C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.46-27C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.46-27C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.95G>A
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.37-27C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.37-27C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.37-27C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-193-27C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.37-27C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.27-27C>T
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-49055522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055522
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055522
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 68037
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.37-30C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.37-30C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.46-30C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.46-30C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.98G>A
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.37-30C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-193-30C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.37-30C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.37-30C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.27-30C>T
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

X-49055529-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055529
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055529
    reference: chr 0
allele count: 3
allele frequency: 4.544215214032537e-5
allele num: 66018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.37-37A>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.105T>G
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.37-37A>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-193-37A>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.37-37A>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.46-37A>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.27-37A>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.37-37A>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.46-37A>C
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.37-37A>C
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14547
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16981
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18448
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

X-49055535-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049055535
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049055535
    reference: chr 0
allele count: 1
allele frequency: 1.577511003139247e-5
allele num: 63391
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.46-43A>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.27-43A>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.37-43A>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.37-43A>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.46-43A>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.111T>C
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-193-43A>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.37-43A>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.37-43A>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.37-43A>G
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

X-49056573-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049056573
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049056573
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 9731
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.36+37G>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.45+37G>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.36+37G>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.259+890C>A
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.36+37G>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.36+37G>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.45+37G>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-194+37G>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.36+37G>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.26+37G>T
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

X-49056632-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049056632
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049056632
    reference: chr 0
allele count: 1
allele frequency: 9.560229445506692e-5
allele num: 10460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.14C>A
  hgvsp: ENSP00000420774.1:p.Ala5Glu
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.14C>A
  hgvsp: ENSP00000365480.2:p.Ala5Glu
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.14C>A
  hgvsp: ENSP00000263233.4:p.Ala5Glu
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.259+949G>T
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.23C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.14C>A
  hgvsp: ENSP00000418987.1:p.Ala5Glu
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-216C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.14C>A
  hgvsp: ENSP00000418169.1:p.Ala5Glu
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.23C>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  hgvsc: ENST00000472598.1:c.4C>A
  hgvsp: ENSP00000418387.1:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala5Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

X-49056633-CCAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049056633
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049056630
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 10575
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.19_21delCTG
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.19_21delCTG
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.10_12delCTG
  hgvsp: ENSP00000365480.2:p.Leu4del
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.259+959_259+961delGCA
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418387
  ensembl transcript: ENST00000472598
  gene symbol: SYP
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-220_-218delCTG
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.10_12delCTG
  hgvsp: ENSP00000263233.4:p.Leu4del
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.10_12delCTG
  hgvsp: ENSP00000418987.1:p.Leu4del
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.10_12delCTG
  hgvsp: ENSP00000420774.1:p.Leu4del
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.10_12delCTG
  hgvsp: ENSP00000418169.1:p.Leu4del
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu4del
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: CCAG
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

X-49056641-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049056641
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049056641
    reference: chr 0
allele count: 3
allele frequency: 2.840909090909091e-4
allele num: 10560
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.259+958A>T
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.5T>A
  hgvsp: ENSP00000365480.2:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.14T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.5T>A
  hgvsp: ENSP00000418169.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.5T>A
  hgvsp: ENSP00000263233.4:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.5T>A
  hgvsp: ENSP00000418987.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.14T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-225T>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.5T>A
  hgvsp: ENSP00000420774.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12597
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11773
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu2Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD

X-49056641-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049056641
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049056641
    reference: chr 0
allele count: 1
allele frequency: 9.46969696969697e-5
allele num: 10560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000437456
  ensembl transcript: ENST00000538567
  gene symbol: SYP
  hgvsc: ENST00000538567.1:c.-225T>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000365480
  ensembl transcript: ENST00000376303
  gene symbol: SYP
  hgvsc: ENST00000376303.2:c.5T>G
  hgvsp: ENSP00000365480.2:p.Leu2Arg
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000494396
  gene symbol: SYP
  hgvsc: ENST00000494396.1:n.14T>G
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418987
  ensembl transcript: ENST00000469389
  gene symbol: SYP
  hgvsc: ENST00000469389.1:c.5T>G
  hgvsp: ENSP00000418987.1:p.Leu2Arg
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.5T>G
  hgvsp: ENSP00000263233.4:p.Leu2Arg
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000420774
  ensembl transcript: ENST00000466635
  gene symbol: SYP
  hgvsc: ENST00000466635.1:c.5T>G
  hgvsp: ENSP00000420774.1:p.Leu2Arg
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.259+958A>C
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000418169
  ensembl transcript: ENST00000479808
  gene symbol: SYP
  hgvsc: ENST00000479808.1:c.5T>G
  hgvsp: ENSP00000418169.1:p.Leu2Arg
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102003
  ensembl transcript: ENST00000472737
  gene symbol: SYP
  hgvsc: ENST00000472737.1:n.14T>G
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu2Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

X-49056664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049056664
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049056664
    reference: chr 0
allele count: 1
allele frequency: 1.008572869389813e-4
allele num: 9915
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.-19C>T
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.259+981G>A
  variant of: http://identifiers.org/hgnc/40571
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 230
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

X-49056673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049056673
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049056673
    reference: chr 0
allele count: 1
allele frequency: 1.066439159645942e-4
allele num: 9377
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.-28G>A
  variant of: http://identifiers.org/hgnc/11506
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.259+990C>T
  variant of: http://identifiers.org/hgnc/40571
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 192
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

X-49056679-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049056679
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049056679
    reference: chr 0
allele count: 1
allele frequency: 1.112470797641562e-4
allele num: 8989
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237341
  ensembl transcript: ENST00000433499
  gene symbol: SYP-AS1
  hgvsc: ENST00000433499.1:n.259+996A>G
  variant of: http://identifiers.org/hgnc/40571
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000102003
  ensembl protein: ENSP00000263233
  ensembl transcript: ENST00000263233
  gene symbol: SYP
  hgvsc: ENST00000263233.4:c.-34T>C
  variant of: http://identifiers.org/hgnc/11506
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

X-49061579-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061579
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061579
    reference: chr 0
allele count: 3
allele frequency: 4.607021100156639e-5
allele num: 65118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.*18A>G
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.*18A>G
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-49061587-G-GGGTGGGAATTCAGAGGGCGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061587
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061607
    reference: chr 0
allele count: 1
allele frequency: 1.46213793809308e-5
allele num: 68393
alternate allele: GGGTGGGAATTCAGAGGGCGT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28785
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

X-49061588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061588
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061588
    reference: chr 0
allele count: 1
allele frequency: 1.453065969195001e-5
allele num: 68820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.*9C>T
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.*9C>T
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15776
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 938
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

X-49061589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061589
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061589
    reference: chr 0
allele count: 1
allele frequency: 1.444502224533426e-5
allele num: 69228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.*8C>T
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2735
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 355
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

X-49061594-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061594
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061594
    reference: chr 0
allele count: 1
allele frequency: 1.400148415732068e-5
allele num: 71421
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.*3T>G
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.*3T>G
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.*3T>G
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29048
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

X-49061601-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061601
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061601
    reference: chr 0
allele count: 2
allele frequency: 2.70775229482007e-5
allele num: 73862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5735T>G
  hgvsp: ENSP00000365427.1:p.Leu1912Arg
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5930T>G
  hgvsp: ENSP00000365441.2:p.Leu1977Arg
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5897T>G
  hgvsp: ENSP00000321618.5:p.Leu1966Arg
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3264
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hgvs: p.Leu1977Arg
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

X-49061606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061606
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061606
    reference: chr 0
allele count: 1
allele frequency: 1.32927461484268e-5
allele num: 75229
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5730C>T
  hgvsp: ENST00000376251.1:c.5730C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5925C>T
  hgvsp: ENST00000376265.2:c.5925C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5892C>T
  hgvsp: ENST00000323022.5:c.5892C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 11771
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 600
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His1975His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

X-49061611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061611
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061611
    reference: chr 0
allele count: 1
allele frequency: 1.310667522969448e-5
allele num: 76297
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5725G>A
  hgvsp: ENSP00000365427.1:p.Val1909Ile
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5887G>A
  hgvsp: ENSP00000321618.5:p.Val1963Ile
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5920G>A
  hgvsp: ENSP00000365441.2:p.Val1974Ile
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 801
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  variant carriers: 0
hgvs: p.Val1974Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

X-49061612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061612
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061612
    reference: chr 0
allele count: 1
allele frequency: 1.306250408203253e-5
allele num: 76555
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5886C>T
  hgvsp: ENST00000323022.5:c.5886C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5919C>T
  hgvsp: ENST00000376265.2:c.5919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5724C>T
  hgvsp: ENST00000376251.1:c.5724C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 135
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  variant carriers: 0
hgvs: p.Cys1973Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

X-49061617-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061617
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061617
    reference: chr 0
allele count: 6
allele frequency: 7.737841915889659e-5
allele num: 77541
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5719G>T
  hgvsp: ENSP00000365427.1:p.Ala1907Ser
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5881G>T
  hgvsp: ENSP00000321618.5:p.Ala1961Ser
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5914G>T
  hgvsp: ENSP00000365441.2:p.Ala1972Ser
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ala1972Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

X-49061619-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061619
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061619
    reference: chr 0
allele count: 1
allele frequency: 1.283301678558596e-5
allele num: 77924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5879T>C
  hgvsp: ENSP00000321618.5:p.Met1960Thr
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5912T>C
  hgvsp: ENSP00000365441.2:p.Met1971Thr
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5717T>C
  hgvsp: ENSP00000365427.1:p.Met1906Thr
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39159
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1971Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

X-49061623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061623
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061623
    reference: chr 0
allele count: 2
allele frequency: 2.552062066149449e-5
allele num: 78368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5908G>A
  hgvsp: ENSP00000365441.2:p.Glu1970Lys
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5713G>A
  hgvsp: ENSP00000365427.1:p.Glu1905Lys
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5875G>A
  hgvsp: ENSP00000321618.5:p.Glu1959Lys
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 324
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  variant carriers: 2
hgvs: p.Glu1970Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

X-49061624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061624
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061624
    reference: chr 0
allele count: 1
allele frequency: 1.273917806823104e-5
allele num: 78498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5874C>T
  hgvsp: ENST00000323022.5:c.5874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5907C>T
  hgvsp: ENST00000376265.2:c.5907C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5712C>T
  hgvsp: ENST00000376251.1:c.5712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 877
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  variant carriers: 0
hgvs: p.Asp1969Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

X-49061635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061635
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061635
    reference: chr 0
allele count: 8
allele frequency: 1.004987249224275e-4
allele num: 79603
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5701G>A
  hgvsp: ENSP00000365427.1:p.Asp1901Asn
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5896G>A
  hgvsp: ENSP00000365441.2:p.Asp1966Asn
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5863G>A
  hgvsp: ENSP00000321618.5:p.Asp1955Asn
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 399
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hgvs: p.Asp1966Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

X-49061636-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061636
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061636
    reference: chr 0
allele count: 1
allele frequency: 1.254862592546116e-5
allele num: 79690
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5895G>C
  hgvsp: ENSP00000365441.2:p.Glu1965Asp
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5700G>C
  hgvsp: ENSP00000365427.1:p.Glu1900Asp
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5862G>C
  hgvsp: ENSP00000321618.5:p.Glu1954Asp
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
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genotype quality: GenotypeQuality
  all individuals: 40180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu1965Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

X-49061644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061644
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061644
    reference: chr 0
allele count: 1
allele frequency: 1.248143386712266e-5
allele num: 80119
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5854G>A
  hgvsp: ENSP00000321618.5:p.Asp1952Asn
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5887G>A
  hgvsp: ENSP00000365441.2:p.Asp1963Asn
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5692G>A
  hgvsp: ENSP00000365427.1:p.Asp1898Asn
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 329
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genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35322
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39890
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 832
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 499
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 156
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genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 8083
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp1963Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-49061644-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061644
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061644
    reference: chr 0
allele count: 1
allele frequency: 1.248143386712266e-5
allele num: 80119
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5692G>C
  hgvsp: ENSP00000365427.1:p.Asp1898His
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5887G>C
  hgvsp: ENSP00000365441.2:p.Asp1963His
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5854G>C
  hgvsp: ENSP00000321618.5:p.Asp1952His
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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genotype depth: GenotypeDepth
  all individuals: 329
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35322
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
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genotype quality: GenotypeQuality
  all individuals: 91
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 417
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genotype quality: GenotypeQuality
  all individuals: 399
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 39890
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 499
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genotype quality: GenotypeQuality
  all individuals: 161
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genotype quality: GenotypeQuality
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp1963His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

X-49061648-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061648
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061648
    reference: chr 0
allele count: 1
allele frequency: 1.244183442406749e-5
allele num: 80374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5883C>A
  hgvsp: ENST00000376265.2:c.5883C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5850C>A
  hgvsp: ENST00000323022.5:c.5850C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5688C>A
  hgvsp: ENST00000376251.1:c.5688C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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genotype depth: GenotypeDepth
  all individuals: 35384
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 330
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3844
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genotype quality: GenotypeQuality
  all individuals: 676
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genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1961Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

X-49061649-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061649
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061649
    reference: chr 0
allele count: 2
allele frequency: 2.488769427956347e-5
allele num: 80361
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5849G>T
  hgvsp: ENSP00000321618.5:p.Arg1950Leu
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5882G>T
  hgvsp: ENSP00000365441.2:p.Arg1961Leu
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5687G>T
  hgvsp: ENSP00000365427.1:p.Arg1896Leu
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
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genotype depth: GenotypeDepth
  all individuals: 3280
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 334
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 35180
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genotype depth: GenotypeDepth
  all individuals: 6627
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
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genotype quality: GenotypeQuality
  all individuals: 372
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genotype quality: GenotypeQuality
  all individuals: 1207
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1961Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

X-49061650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061650
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061650
    reference: chr 0
allele count: 5
allele frequency: 6.219988555221059e-5
allele num: 80386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5686C>T
  hgvsp: ENSP00000365427.1:p.Arg1896Cys
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5848C>T
  hgvsp: ENSP00000321618.5:p.Arg1950Cys
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5881C>T
  hgvsp: ENSP00000365441.2:p.Arg1961Cys
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1253
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genotype quality: GenotypeQuality
  all individuals: 39259
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
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genotype quality: GenotypeQuality
  all individuals: 198
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 682
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1961Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-49061652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061652
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061652
    reference: chr 0
allele count: 14
allele frequency: 1.738374619730552e-4
allele num: 80535
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5684C>T
  hgvsp: ENSP00000365427.1:p.Ser1895Phe
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5879C>T
  hgvsp: ENSP00000365441.2:p.Ser1960Phe
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5846C>T
  hgvsp: ENSP00000321618.5:p.Ser1949Phe
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34893
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 140
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 39817
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 970
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
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  variant carriers: 0
hgvs: p.Ser1960Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

X-49061662-ACTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061662
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061659
    reference: chr 0
allele count: 2
allele frequency: 2.477332408462567e-5
allele num: 80732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5833_5835delGAG
  hgvsp: ENSP00000321618.5:p.Glu1945del
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5671_5673delGAG
  hgvsp: ENSP00000365427.1:p.Glu1891del
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5866_5868delGAG
  hgvsp: ENSP00000365441.2:p.Glu1956del
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 38908
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu1956del
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: ACTC
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

X-49061668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061668
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061668
    reference: chr 0
allele count: 2
allele frequency: 2.47690288063805e-5
allele num: 80746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5668G>A
  hgvsp: ENSP00000365427.1:p.Glu1890Lys
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5863G>A
  hgvsp: ENSP00000365441.2:p.Glu1955Lys
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5830G>A
  hgvsp: ENSP00000321618.5:p.Glu1944Lys
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6283
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1955Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

X-49061669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061669
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061669
    reference: chr 0
allele count: 477
allele frequency: 5.905000061897275e-3
allele num: 80779
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5862C>T
  hgvsp: ENST00000376265.2:c.5862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5667C>T
  hgvsp: ENST00000376251.1:c.5667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5829C>T
  hgvsp: ENST00000323022.5:c.5829C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 33584
  bin: 2.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
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  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
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  variant carriers: 69
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  variant carriers: 11
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 159
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genotype quality: GenotypeQuality
  all individuals: 400
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  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 6.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.75e1
  variant carriers: 321
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.25e1
  variant carriers: 11
hgvs: p.Asp1954Asp
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

X-49061671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061671
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061671
    reference: chr 0
allele count: 26
allele frequency: 3.217582852758459e-4
allele num: 80806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5827G>A
  hgvsp: ENSP00000321618.5:p.Asp1943Asn
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5860G>A
  hgvsp: ENSP00000365441.2:p.Asp1954Asn
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5665G>A
  hgvsp: ENSP00000365427.1:p.Asp1889Asn
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33556
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6249
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3043
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 155
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 389
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genotype quality: GenotypeQuality
  all individuals: 901
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Asp1954Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

X-49061693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061693
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061693
    reference: chr 0
allele count: 1
allele frequency: 1.240356230309345e-5
allele num: 80622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5643G>A
  hgvsp: ENST00000376251.1:c.5643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5838G>A
  hgvsp: ENST00000376265.2:c.5838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5805G>A
  hgvsp: ENST00000323022.5:c.5805G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln1946Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

X-49061697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061697
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061697
    reference: chr 0
allele count: 1
allele frequency: 1.241202973922325e-5
allele num: 80567
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5639C>T
  hgvsp: ENSP00000365427.1:p.Ala1880Val
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5834C>T
  hgvsp: ENSP00000365441.2:p.Ala1945Val
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5801C>T
  hgvsp: ENSP00000321618.5:p.Ala1934Val
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1945Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

X-49061701-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061701
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061701
    reference: chr 0
allele count: 1
allele frequency: 1.243116243799958e-5
allele num: 80443
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5635C>A
  hgvsp: ENSP00000365427.1:p.Leu1879Met
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5797C>A
  hgvsp: ENSP00000321618.5:p.Leu1933Met
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5830C>A
  hgvsp: ENSP00000365441.2:p.Leu1944Met
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 144
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  variant carriers: 0
hgvs: p.Leu1944Met
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: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

X-49061708-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061708
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061708
    reference: chr 0
allele count: 1
allele frequency: 1.245097428873809e-5
allele num: 80315
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5823T>A
  hgvsp: ENSP00000365441.2:p.Ser1941Arg
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5790T>A
  hgvsp: ENSP00000321618.5:p.Ser1930Arg
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5628T>A
  hgvsp: ENSP00000365427.1:p.Ser1876Arg
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ser1941Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-49061709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061709
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061709
    reference: chr 0
allele count: 1
allele frequency: 1.245562682942019e-5
allele num: 80285
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5789G>A
  hgvsp: ENSP00000321618.5:p.Ser1930Asn
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5822G>A
  hgvsp: ENSP00000365441.2:p.Ser1941Asn
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5627G>A
  hgvsp: ENSP00000365427.1:p.Ser1876Asn
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ser1941Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

X-49061718-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061718
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061718
    reference: chr 0
allele count: 1
allele frequency: 1.251705448673818e-5
allele num: 79891
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5618A>G
  hgvsp: ENSP00000365427.1:p.Asn1873Ser
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5813A>G
  hgvsp: ENSP00000365441.2:p.Asn1938Ser
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5780A>G
  hgvsp: ENSP00000321618.5:p.Asn1927Ser
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1303
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn1938Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

X-49061733-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061733
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061733
    reference: chr 0
allele count: 1
allele frequency: 1.268182567562426e-5
allele num: 78853
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5765T>G
  hgvsp: ENSP00000321618.5:p.Leu1922Arg
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5603T>G
  hgvsp: ENSP00000365427.1:p.Leu1868Arg
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5798T>G
  hgvsp: ENSP00000365441.2:p.Leu1933Arg
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1898
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 163
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 238
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 934
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genotype quality: GenotypeQuality
  all individuals: 343
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 410
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1933Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

X-49061735-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061735
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061735
    reference: chr 0
allele count: 10
allele frequency: 1.272701818690899e-4
allele num: 78573
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5796G>A
  hgvsp: ENST00000376265.2:c.5796G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5601G>A
  hgvsp: ENST00000376251.1:c.5601G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5763G>A
  hgvsp: ENST00000323022.5:c.5763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 409
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genotype quality: GenotypeQuality
  all individuals: 351
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1603
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr1932Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

X-49061736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061736
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061736
    reference: chr 0
allele count: 3
allele frequency: 3.817376698732631e-5
allele num: 78588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5762C>T
  hgvsp: ENSP00000321618.5:p.Thr1921Met
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5795C>T
  hgvsp: ENSP00000365441.2:p.Thr1932Met
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5600C>T
  hgvsp: ENSP00000365427.1:p.Thr1867Met
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 608
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genotype quality: GenotypeQuality
  all individuals: 414
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  variant carriers: 0
hgvs: p.Thr1932Met
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

X-49061741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061741
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061741
    reference: chr 0
allele count: 6
allele frequency: 7.675775253300584e-5
allele num: 78168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5595C>T
  hgvsp: ENST00000376251.1:c.5595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5757C>T
  hgvsp: ENST00000323022.5:c.5757C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5790C>T
  hgvsp: ENST00000376265.2:c.5790C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1930Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-49061742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061742
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061742
    reference: chr 0
allele count: 8353
allele frequency: 1.073733192791218e-1
allele num: 77794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5594G>A
  hgvsp: ENSP00000365427.1:p.Arg1865His
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5756G>A
  hgvsp: ENSP00000321618.5:p.Arg1919His
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5789G>A
  hgvsp: ENSP00000365441.2:p.Arg1930His
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 770
genotype depth: GenotypeDepth
  all individuals: 25988
  bin: 2.25e1
  variant carriers: 961
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.75e1
  variant carriers: 857
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 535
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 7.5e0
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 1.75e1
  variant carriers: 1047
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.25e1
  variant carriers: 825
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 1.25e1
  variant carriers: 762
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 668
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 466
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 358
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.75e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 5620
  bin: 9.75e1
  variant carriers: 5486
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 149
genotype quality: GenotypeQuality
  all individuals: 30271
  bin: 6.25e1
  variant carriers: 225
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 6.75e1
  variant carriers: 180
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 5.75e1
  variant carriers: 160
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 327
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 4.25e1
  variant carriers: 196
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 11486
  bin: 2.25e1
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 320
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.75e1
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 256
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.5e0
  variant carriers: 72
hgvs: p.Arg1930His
num of homozygotes: 325
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

X-49061743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061743
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061743
    reference: chr 0
allele count: 1
allele frequency: 1.296344309048483e-5
allele num: 77140
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5788C>T
  hgvsp: ENSP00000365441.2:p.Arg1930Cys
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5755C>T
  hgvsp: ENSP00000321618.5:p.Arg1919Cys
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5593C>T
  hgvsp: ENSP00000365427.1:p.Arg1865Cys
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27241
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1930Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

X-49061746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061746
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061746
    reference: chr 0
allele count: 2
allele frequency: 2.604437962287738e-5
allele num: 76792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000321618
  ensembl transcript: ENST00000323022
  gene symbol: CACNA1F
  hgvsc: ENST00000323022.5:c.5752T>C
  hgvsp: ENSP00000321618.5:p.Cys1918Arg
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365427
  ensembl transcript: ENST00000376251
  gene symbol: CACNA1F
  hgvsc: ENST00000376251.1:c.5590T>C
  hgvsp: ENSP00000365427.1:p.Cys1864Arg
  variant of: http://identifiers.org/hgnc/1393
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102001
  ensembl protein: ENSP00000365441
  ensembl transcript: ENST00000376265
  gene symbol: CACNA1F
  hgvsc: ENST00000376265.2:c.5785T>C
  hgvsp: ENSP00000365441.2:p.Cys1929Arg
  variant of: http://identifiers.org/hgnc/1393
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27032
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys1929Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

X-49061747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049061747
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049061747
    reference: chr 0
allele count: 3
allele frequency: 3.912924389257718e-5
allele num: 76669
alternate allele: T
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Ala1928Ala
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2543
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21871
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5153
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 8.410428931875525e-4
allele num: 2378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7144
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.592e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 5.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.213e1

DP
type: SiteQuality
SIO_000300: 9.56422e5

GenotypeQuality
all individuals: 855
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21763
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2393
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5145
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.162e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.026e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.165e0

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

DP
type: SiteQuality
SIO_000300: 9.61633e5

GenotypeQuality
all individuals: 2514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

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

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.704343857847751e-5
allele num: 35061
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6873
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7159
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 427
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5231
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.866e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.233e-1

FS
type: SiteQuality
SIO_000300: 7.025e0

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

DP
type: SiteQuality
SIO_000300: 9.71118e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7279
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6947
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2511
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35507
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 9.79406e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.257e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

QD
type: SiteQuality
SIO_000300: 2.388e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 141
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 22285
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variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2545
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35797
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5307
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7305
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 8.586147681740126e-4
allele num: 6988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 435
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.477e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.76175e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19855
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35896
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 4.098920617570706e-4
allele num: 7319
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5305
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6993
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2537
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7317
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 2.027e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

FS
type: SiteQuality
SIO_000300: 9.315e0

DP
type: SiteQuality
SIO_000300: 9.59518e5

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.126e0

VQSLOD
type: SiteQuality
SIO_000300: -8.471e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35939
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7329
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5281
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.368363437328955e-4
allele num: 7308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.904e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

DP
type: SiteQuality
SIO_000300: 9.48037e5

MQ
type: SiteQuality
SIO_000300: 5.846e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 188
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2543
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36041
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7333
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.369487811558477e-4
allele num: 7302
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.752e0

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 2.741e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.376e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.33232e5

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2519
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7273
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.782260308274442e-5
allele num: 35942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5247
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 439
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.006e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.24996e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2527
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36027
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7023
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.898253606681853e-4
allele num: 5268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12786
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4818
bin: 3.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.611987204669173e-5
allele num: 35638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6949
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 439
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7279
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.639e0

FS
type: SiteQuality
SIO_000300: 1.0767e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 9.05386e5

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12326
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4956
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 580
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5198
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.545176889793841e-5
allele num: 39290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5813
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

DP
type: SiteQuality
SIO_000300: 1.317145e6

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.603e-1

FS
type: SiteQuality
SIO_000300: 3.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 5.25e0

GenotypeQuality
all individuals: 3886
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 620
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2447
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.334757074212493e-4
allele num: 7492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40248
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.381427e6

VQSLOD
type: SiteQuality
SIO_000300: -4.255e-1

MQ
type: SiteQuality
SIO_000300: 5.652e1

QD
type: SiteQuality
SIO_000300: 2.387e1

GenotypeQuality
all individuals: 2315
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4954
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2954
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 366
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2987
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.432557347539468e-5
allele num: 41109
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7613
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.767e1

VQSLOD
type: SiteQuality
SIO_000300: -1.293e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 2.791e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.421606e6

GenotypeQuality
all individuals: 1667
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8547
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8425
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2993
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41153
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.650437365901964e-4
allele num: 6059
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.361e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.427391e6

FS
type: SiteQuality
SIO_000300: 2.176e0

QD
type: SiteQuality
SIO_000300: 1.8e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

GenotypeQuality
all individuals: 530
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4955
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27681
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8607
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7657
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3023
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 507
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

DP
type: SiteQuality
SIO_000300: 1.443924e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.146e1

GenotypeQuality
all individuals: 530
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11462
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4955
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 626
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27681
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7657
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3023
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.41254523522316e-5
allele num: 41450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8607
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 507
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.146e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.443924e6

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9368
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 2.5e0
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GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4955
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8753
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7863
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 533
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6305
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.52603e6

VQSLOD
type: SiteQuality
SIO_000300: -2.66e0

MQ
type: SiteQuality
SIO_000300: 3.7e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 2.564e1

GenotypeQuality
all individuals: 713
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.5e0
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GenotypeQuality
all individuals: 1223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4956
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.591849729385546e-4
allele num: 6282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8645
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42973
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 2.347e0

QD
type: SiteQuality
SIO_000300: 1.052e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.507667e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

GenotypeQuality
all individuals: 290
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30067
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4955
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1075
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12219
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8605
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 525
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.566405748748877e-4
allele num: 7793
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42698
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.496118e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.692e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

GenotypeQuality
all individuals: 347
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4956
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8609
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.282544568423753e-4
allele num: 7797
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42683
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 525
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.139081899988609e-4
allele num: 8779
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6241
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

QD
type: SiteQuality
SIO_000300: 2.926e1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.496352e6

GenotypeQuality
all individuals: 187
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3930
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3165
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.820825968182549e-4
allele num: 6223
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42431
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8746
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 4.18e0

QD
type: SiteQuality
SIO_000300: 1.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.48043e6

GenotypeQuality
all individuals: 4167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 735
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38307
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8151
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5709
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.374948439433521e-4
allele num: 7273
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

DP
type: SiteQuality
SIO_000300: 1.237417e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.753e1

VQSLOD
type: SiteQuality
SIO_000300: -2.253e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20564
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4953
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9399
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2635
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.327934359848686e-5
allele num: 37538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7159
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7645
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8041
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.058e0

DP
type: SiteQuality
SIO_000300: 1.197667e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.368e1

MQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.075e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeQuality
all individuals: 310
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4550
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20172
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1417
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
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GenotypeQuality
all individuals: 5192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4302
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 471
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5503
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36949
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.8e0

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

QD
type: SiteQuality
SIO_000300: 2.958e1

DP
type: SiteQuality
SIO_000300: 1.178773e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

GenotypeQuality
all individuals: 645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4953
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5204
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 451
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7785
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 4.123711340206186e-4
allele num: 7275
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6939
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.488e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

QD
type: SiteQuality
SIO_000300: 1.745e1

DP
type: SiteQuality
SIO_000300: 1.136723e6

FS
type: SiteQuality
SIO_000300: 3.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5704
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3335
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5793
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
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GenotypeQuality
all individuals: 4311
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3831
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4950
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
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GenotypeQuality
all individuals: 722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.937608990505716e-4
allele num: 5161
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -3.22e-1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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QD
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4061
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
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QD
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -6.34e-2

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 3
allele frequency: 7.374631268436578e-4
allele num: 4068
num of homozygotes: 0

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

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

Latino
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VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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QD
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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African
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South Asian
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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MQRankSum
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ClippingRankSum
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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MQ
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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FS
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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Other
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African
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European (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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allele frequency: 5.683594305038506e-5
allele num: 35189
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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Other
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African
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.045998e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.322051824431518e-4
allele num: 7564
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 0.0e0
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Latino
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InbreedingCoeff
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BaseQRankSum
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MQ
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FS
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DP
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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QD
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DP
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FS
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InbreedingCoeff
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MQ
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.567591855598634e-5
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num of homozygotes: 0

African
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South Asian
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East Asian
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Latino
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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ClippingRankSum
type: SiteQuality
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MQ
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GenotypeQuality
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variant carriers: 2

South Asian
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allele num: 8028
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Other
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allele frequency: 0.0e0
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East Asian
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African
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 41156
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South Asian
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East Asian
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African
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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QD
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.396931927133269e-5
allele num: 41720
num of homozygotes: 0

Latino
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East Asian
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Other
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South Asian
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
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allele frequency: 1.198609612849095e-4
allele num: 8343
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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East Asian
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allele frequency: 0.0e0
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FS
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
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QD
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DP
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MQRankSum
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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South Asian
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East Asian
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allele frequency: 9.815148045149681e-4
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European (Finnish)
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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Other
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East Asian
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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African
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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East Asian
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African
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Other
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QD
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MQ
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DP
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

FS
type: SiteQuality
SIO_000300: 9.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

GenotypeQuality
all individuals: 8083
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.256597134958532e-4
allele num: 7958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3811
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6259
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 559
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.264204e6

MQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

FS
type: SiteQuality
SIO_000300: 9.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.335e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

GenotypeQuality
all individuals: 853
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8841
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.254862592546116e-4
allele num: 7969
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8847
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3839
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.356e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.843e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

QD
type: SiteQuality
SIO_000300: 5.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.091e0

DP
type: SiteQuality
SIO_000300: 1.26727e6

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

GenotypeQuality
all individuals: 956
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.27102400472373e-5
allele num: 44033
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3828
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.130198915009042e-4
allele num: 8848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8837
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
SIO_000300: 1.268734e6

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1057
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.135228407955681e-4
allele num: 44044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8849
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.267861e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

QD
type: SiteQuality
SIO_000300: 1.601e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

GenotypeQuality
all individuals: 908
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8863
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6291
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 3.172588832487309e-4
allele num: 44128
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.688e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.511e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.12e-2

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.268805e6

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7995
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6307
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.243158366980709e-4
allele num: 8916
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.813e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 3.976e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 2.549e1

DP
type: SiteQuality
SIO_000300: 1.266622e6

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8929
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.520182615377661e-5
allele num: 44246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7989
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8871
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.267668e6

QD
type: SiteQuality
SIO_000300: 3.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.153e0

GenotypeQuality
all individuals: 38647
bin: 6.25e1
variant carriers: 13

Other
type: Population
allele count: 5
allele frequency: 8.865248226950355e-3
allele num: 564
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 7.895330475975637e-4
allele num: 8866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 368
allele frequency: 8.314693056779413e-3
allele num: 44259
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 88
allele frequency: 2.286902286902287e-2
allele num: 3848
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6315
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.126549004881712e-3
allele num: 7989
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.282e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.096e-1

DP
type: SiteQuality
SIO_000300: 1.276146e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.721e1

GenotypeQuality
all individuals: 356
bin: 9.75e1
variant carriers: 19

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3853
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 2.369400880063184e-3
allele num: 8863
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7995
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.035260102550202e-5
allele num: 44271
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.582278481012658e-4
allele num: 6320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.26893e6

VQSLOD
type: SiteQuality
SIO_000300: -4.724e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

FS
type: SiteQuality
SIO_000300: 3.253e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.529e1

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.128413450688332e-4
allele num: 8862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6323
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44163
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3821
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.708e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.595e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.528e1

DP
type: SiteQuality
SIO_000300: 1.259184e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3813
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8947
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6309
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.265621459966469e-5
allele num: 44138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8855
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7937
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.254e1

DP
type: SiteQuality
SIO_000300: 1.257102e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.117e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 338
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8933
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3799
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44079
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.132631102050062e-4
allele num: 8829
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.254768e6

QD
type: SiteQuality
SIO_000300: 2.614e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.145e0

VQSLOD
type: SiteQuality
SIO_000300: -3.167e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

GenotypeQuality
all individuals: 1450
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.134301270417423e-4
allele num: 8816
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44010
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3767
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8922
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

QD
type: SiteQuality
SIO_000300: 1.723e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.166e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

DP
type: SiteQuality
SIO_000300: 1.25155e6

FS
type: SiteQuality
SIO_000300: 7.071e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.74e-1

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 567
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8925
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3765
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.472e0

DP
type: SiteQuality
SIO_000300: 1.252207e6

QD
type: SiteQuality
SIO_000300: 5.94e0

GenotypeQuality
all individuals: 3642
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6299
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8881
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3720
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.269035532994924e-4
allele num: 7880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8785
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43765
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.354e1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 2.887e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.246087e6

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

GenotypeQuality
all individuals: 35439
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3643
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.135976371691469e-4
allele num: 8803
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 557
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 3.024e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.226135e6

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 1.157854110382092e-3
allele num: 7773
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 555
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3621
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8773
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.329210630517318e-5
allele num: 42933
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

DP
type: SiteQuality
SIO_000300: 1.222775e6

FS
type: SiteQuality
SIO_000300: 6.006e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeQuality
all individuals: 346
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7775
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8663
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.657878801993572e-5
allele num: 42938
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.801801801801802e-3
allele num: 555
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6249
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.727e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.222913e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

FS
type: SiteQuality
SIO_000300: 1.3335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

QD
type: SiteQuality
SIO_000300: 2.545e1

GenotypeQuality
all individuals: 1592
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 8.032128514056225e-4
allele num: 6225
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7727
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42708
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.142334932602239e-4
allele num: 8754
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.681e0

DP
type: SiteQuality
SIO_000300: 1.212725e6

QD
type: SiteQuality
SIO_000300: 2.101e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.501e0

GenotypeQuality
all individuals: 1264
bin: 5.25e1
variant carriers: 321

East Asian
type: Population
allele count: 1206
allele frequency: 1.962251871135698e-1
allele num: 6146
num of homozygotes: 85

Latino
type: Population
allele count: 609
allele frequency: 7.11864406779661e-2
allele num: 8555
num of homozygotes: 24

European (Non-Finnish)
type: Population
allele count: 3780
allele frequency: 8.903964384142464e-2
allele num: 42453
num of homozygotes: 107

Other
type: Population
allele count: 52
allele frequency: 9.576427255985268e-2
allele num: 543
num of homozygotes: 1

African
type: Population
allele count: 172
allele frequency: 2.233186185406388e-2
allele num: 7702
num of homozygotes: 1

South Asian
type: Population
allele count: 2215
allele frequency: 2.506790402897239e-1
allele num: 8836
num of homozygotes: 101

European (Finnish)
type: Population
allele count: 319
allele frequency: 8.963191907839281e-2
allele num: 3559
num of homozygotes: 6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

VQSLOD
type: SiteQuality
SIO_000300: 3.951e1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.522e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.357054e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.89e1

GenotypeQuality
all individuals: 446
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8537
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3495
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7691
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.368770134546144e-5
allele num: 42216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 533
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.603e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.210388e6

MQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 1.3823e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 1.597e1

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7671
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8519
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.379535990481856e-5
allele num: 42025
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.892681515765114e-4
allele num: 3457
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

QD
type: SiteQuality
SIO_000300: 3.022e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.201502e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1