21-34011221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011221
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011221
    reference: chr 21
allele count: 4
allele frequency: 3.382206213112813e-5
allele num: 118266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.4029G>A
  hgvsp: ENST00000433931.2:c.4029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3864G>A
  hgvsp: ENST00000357345.3:c.3864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3771G>A
  hgvsp: ENST00000382491.3:c.3771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3912G>A
  hgvsp: ENST00000322229.7:c.3912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.374G>A
  hgvsp: ENST00000418301.1:c.374G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.4029G>A
  hgvsp: ENST00000382499.2:c.4029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.538G>A
  hgvsp: ENST00000438952.1:c.538G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro1343Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

21-34011222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011222
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011222
    reference: chr 21
allele count: 1
allele frequency: 8.42034355001684e-6
allele num: 118760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.4028C>T
  hgvsp: ENSP00000409667.2:p.Pro1343Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3863C>T
  hgvsp: ENSP00000349903.3:p.Pro1288Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.537C>T
  hgvsp: ENSP00000388869.1:p.Pro180Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3911C>T
  hgvsp: ENSP00000322234.7:p.Pro1304Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.373C>T
  hgvsp: ENSP00000387868.1:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.4028C>T
  hgvsp: ENSP00000371939.2:p.Pro1343Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3770C>T
  hgvsp: ENSP00000371931.3:p.Pro1257Leu
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1343Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

21-34011225-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011225
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011225
    reference: chr 21
allele count: 3
allele frequency: 2.517116391461941e-5
allele num: 119184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.4025A>G
  hgvsp: ENSP00000371939.2:p.Gln1342Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.4025A>G
  hgvsp: ENSP00000409667.2:p.Gln1342Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3860A>G
  hgvsp: ENSP00000349903.3:p.Gln1287Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3767A>G
  hgvsp: ENSP00000371931.3:p.Gln1256Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.370A>G
  hgvsp: ENSP00000387868.1:p.Gln124Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.534A>G
  hgvsp: ENSP00000388869.1:p.Gln179Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3908A>G
  hgvsp: ENSP00000322234.7:p.Gln1303Arg
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10330
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln1342Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

21-34011249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011249
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011249
    reference: chr 21
allele count: 2
allele frequency: 1.654478673769895e-5
allele num: 120884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.510G>A
  hgvsp: ENSP00000388869.1:p.Ser171Asn
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3836G>A
  hgvsp: ENSP00000349903.3:p.Ser1279Asn
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.4001G>A
  hgvsp: ENSP00000409667.2:p.Ser1334Asn
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.346G>A
  hgvsp: ENSP00000387868.1:p.Ser116Asn
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.4001G>A
  hgvsp: ENSP00000371939.2:p.Ser1334Asn
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3884G>A
  hgvsp: ENSP00000322234.7:p.Ser1295Asn
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3743G>A
  hgvsp: ENSP00000371931.3:p.Ser1248Asn
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1334Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-34011253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011253
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011253
    reference: chr 21
allele count: 2
allele frequency: 1.652564780539397e-5
allele num: 121024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.506C>T
  hgvsp: ENSP00000388869.1:p.His170Tyr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3997C>T
  hgvsp: ENSP00000409667.2:p.His1333Tyr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.342C>T
  hgvsp: ENSP00000387868.1:p.His115Tyr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3997C>T
  hgvsp: ENSP00000371939.2:p.His1333Tyr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3880C>T
  hgvsp: ENSP00000322234.7:p.His1294Tyr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3832C>T
  hgvsp: ENSP00000349903.3:p.His1278Tyr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3739C>T
  hgvsp: ENSP00000371931.3:p.His1247Tyr
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His1333Tyr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

21-34011257-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011257
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011257
    reference: chr 21
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3993A>T
  hgvsp: ENST00000433931.2:c.3993A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3828A>T
  hgvsp: ENST00000357345.3:c.3828A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.338A>T
  hgvsp: ENST00000418301.1:c.338A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3993A>T
  hgvsp: ENST00000382499.2:c.3993A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3876A>T
  hgvsp: ENST00000322229.7:c.3876A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.502A>T
  hgvsp: ENST00000438952.1:c.502A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3735A>T
  hgvsp: ENST00000382491.3:c.3735A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1331Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-34011260-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011260
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011260
    reference: chr 21
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.335G>C
  hgvsp: ENSP00000387868.1:p.Arg112Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3990G>C
  hgvsp: ENSP00000409667.2:p.Arg1330Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.499G>C
  hgvsp: ENSP00000388869.1:p.Arg167Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3990G>C
  hgvsp: ENSP00000371939.2:p.Arg1330Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3732G>C
  hgvsp: ENSP00000371931.3:p.Arg1244Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3873G>C
  hgvsp: ENSP00000322234.7:p.Arg1291Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3825G>C
  hgvsp: ENSP00000349903.3:p.Arg1275Ser
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34172
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1330Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

21-34011260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011260
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011260
    reference: chr 21
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.335G>A
  hgvsp: ENST00000418301.1:c.335G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3873G>A
  hgvsp: ENST00000322229.7:c.3873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3732G>A
  hgvsp: ENST00000382491.3:c.3732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3990G>A
  hgvsp: ENST00000382499.2:c.3990G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.499G>A
  hgvsp: ENST00000438952.1:c.499G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3990G>A
  hgvsp: ENST00000433931.2:c.3990G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3825G>A
  hgvsp: ENST00000357345.3:c.3825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10330
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1330Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

21-34011261-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011261
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011261
    reference: chr 21
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.334G>C
  hgvsp: ENSP00000387868.1:p.Arg112Thr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3989G>C
  hgvsp: ENSP00000371939.2:p.Arg1330Thr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3824G>C
  hgvsp: ENSP00000349903.3:p.Arg1275Thr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3989G>C
  hgvsp: ENSP00000409667.2:p.Arg1330Thr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3731G>C
  hgvsp: ENSP00000371931.3:p.Arg1244Thr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.498G>C
  hgvsp: ENSP00000388869.1:p.Arg167Thr
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3872G>C
  hgvsp: ENSP00000322234.7:p.Arg1291Thr
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15770
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1330Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

21-34011267-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011267
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011267
    reference: chr 21
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.492G>C
  hgvsp: ENSP00000388869.1:p.Arg165Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3725G>C
  hgvsp: ENSP00000371931.3:p.Arg1242Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3983G>C
  hgvsp: ENSP00000371939.2:p.Arg1328Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3983G>C
  hgvsp: ENSP00000409667.2:p.Arg1328Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3866G>C
  hgvsp: ENSP00000322234.7:p.Arg1289Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.328G>C
  hgvsp: ENSP00000387868.1:p.Arg110Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3818G>C
  hgvsp: ENSP00000349903.3:p.Arg1273Pro
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10329
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1328Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

21-34011268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011268
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011268
    reference: chr 21
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.327C>T
  hgvsp: ENSP00000387868.1:p.Arg110Ter
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3865C>T
  hgvsp: ENSP00000322234.7:p.Arg1289Ter
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3724C>T
  hgvsp: ENSP00000371931.3:p.Arg1242Ter
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3982C>T
  hgvsp: ENSP00000371939.2:p.Arg1328Ter
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3817C>T
  hgvsp: ENSP00000349903.3:p.Arg1273Ter
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.491C>T
  hgvsp: ENSP00000388869.1:p.Arg165Ter
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3982C>T
  hgvsp: ENSP00000409667.2:p.Arg1328Ter
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg1328Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

21-34011283-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011283
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011283
    reference: chr 21
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3709C>G
  hgvsp: ENSP00000371931.3:p.Pro1237Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3967C>G
  hgvsp: ENSP00000409667.2:p.Pro1323Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3967C>G
  hgvsp: ENSP00000371939.2:p.Pro1323Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.312C>G
  hgvsp: ENSP00000387868.1:p.Pro105Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3802C>G
  hgvsp: ENSP00000349903.3:p.Pro1268Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.476C>G
  hgvsp: ENSP00000388869.1:p.Pro160Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3850C>G
  hgvsp: ENSP00000322234.7:p.Pro1284Ala
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1323Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

21-34011286-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011286
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011286
    reference: chr 21
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.309C>G
  hgvsp: ENSP00000387868.1:p.Pro104Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.473C>G
  hgvsp: ENSP00000388869.1:p.Pro159Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3964C>G
  hgvsp: ENSP00000409667.2:p.Pro1322Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3847C>G
  hgvsp: ENSP00000322234.7:p.Pro1283Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3964C>G
  hgvsp: ENSP00000371939.2:p.Pro1322Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3706C>G
  hgvsp: ENSP00000371931.3:p.Pro1236Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3799C>G
  hgvsp: ENSP00000349903.3:p.Pro1267Ala
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1322Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

21-34011295-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011295
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011295
    reference: chr 21
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.300T>A
  hgvsp: ENSP00000387868.1:p.Leu101Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.464T>A
  hgvsp: ENSP00000388869.1:p.Leu156Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3955T>A
  hgvsp: ENSP00000409667.2:p.Leu1319Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3790T>A
  hgvsp: ENSP00000349903.3:p.Leu1264Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3838T>A
  hgvsp: ENSP00000322234.7:p.Leu1280Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3955T>A
  hgvsp: ENSP00000371939.2:p.Leu1319Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3697T>A
  hgvsp: ENSP00000371931.3:p.Leu1233Met
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10321
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu1319Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

21-34011297-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011297
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011297
    reference: chr 21
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.462A>G
  hgvsp: ENSP00000388869.1:p.Asn155Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3953A>G
  hgvsp: ENSP00000409667.2:p.Asn1318Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3695A>G
  hgvsp: ENSP00000371931.3:p.Asn1232Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3788A>G
  hgvsp: ENSP00000349903.3:p.Asn1263Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.298A>G
  hgvsp: ENSP00000387868.1:p.Asn100Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3836A>G
  hgvsp: ENSP00000322234.7:p.Asn1279Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3953A>G
  hgvsp: ENSP00000371939.2:p.Asn1318Ser
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn1318Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

21-34011299-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011299
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011299
    reference: chr 21
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3693A>T
  hgvsp: ENST00000382491.3:c.3693A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3786A>T
  hgvsp: ENST00000357345.3:c.3786A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.296A>T
  hgvsp: ENST00000418301.1:c.296A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3834A>T
  hgvsp: ENST00000322229.7:c.3834A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3951A>T
  hgvsp: ENST00000382499.2:c.3951A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.460A>T
  hgvsp: ENST00000438952.1:c.460A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3951A>T
  hgvsp: ENST00000433931.2:c.3951A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1317Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

21-34011306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011306
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011306
    reference: chr 21
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3944C>T
  hgvsp: ENSP00000371939.2:p.Pro1315Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3779C>T
  hgvsp: ENSP00000349903.3:p.Pro1260Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3944C>T
  hgvsp: ENSP00000409667.2:p.Pro1315Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.453C>T
  hgvsp: ENSP00000388869.1:p.Pro152Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3827C>T
  hgvsp: ENSP00000322234.7:p.Pro1276Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3686C>T
  hgvsp: ENSP00000371931.3:p.Pro1229Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.289C>T
  hgvsp: ENSP00000387868.1:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1315Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/21-34011314-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011314
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011314
    reference: chr 21
allele count: 5
allele frequency: 4.11936265221045e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3771G>T
  hgvsp: ENSP00000349903.3:p.Gln1257His
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3936G>T
  hgvsp: ENSP00000371939.2:p.Gln1312His
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3678G>T
  hgvsp: ENSP00000371931.3:p.Gln1226His
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3819G>T
  hgvsp: ENSP00000322234.7:p.Gln1273His
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3936G>T
  hgvsp: ENSP00000409667.2:p.Gln1312His
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.281G>T
  hgvsp: ENSP00000387868.1:p.Gln94His
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.445G>T
  hgvsp: ENSP00000388869.1:p.Gln149His
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10306
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1312His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

21-34011317-A-AGGCATAGGTGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011317
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011329
    reference: chr 21
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: AGGCATAGGTGCT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsp: ENSP00000387868.1:p.Ala90_Pro93dup
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsp: ENSP00000322234.7:p.Ala1269_Pro1272dup
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsp: ENSP00000409667.2:p.Ala1308_Pro1311dup
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsp: ENSP00000371931.3:p.Ala1222_Pro1225dup
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsp: ENSP00000349903.3:p.Ala1253_Pro1256dup
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsp: ENSP00000371939.2:p.Ala1308_Pro1311dup
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsp: ENSP00000388869.1:p.Ala145_Pro148dup
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1308_Pro1311dup
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

21-34011322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011322
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011322
    reference: chr 21
allele count: 4
allele frequency: 3.295001482750667e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3928A>G
  hgvsp: ENSP00000371939.2:p.Met1310Val
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3670A>G
  hgvsp: ENSP00000371931.3:p.Met1224Val
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.437A>G
  hgvsp: ENSP00000388869.1:p.Met147Val
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3763A>G
  hgvsp: ENSP00000349903.3:p.Met1255Val
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.273A>G
  hgvsp: ENSP00000387868.1:p.Met92Val
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3928A>G
  hgvsp: ENSP00000409667.2:p.Met1310Val
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3811A>G
  hgvsp: ENSP00000322234.7:p.Met1271Val
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met1310Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

21-34011326-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011326
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011326
    reference: chr 21
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.364A>C
  hgvsp: ENST00000416083.1:c.364A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.269A>C
  hgvsp: ENST00000418301.1:c.269A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3759A>C
  hgvsp: ENST00000357345.3:c.3759A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3666A>C
  hgvsp: ENST00000382491.3:c.3666A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3924A>C
  hgvsp: ENST00000382499.2:c.3924A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3924A>C
  hgvsp: ENST00000433931.2:c.3924A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3807A>C
  hgvsp: ENST00000322229.7:c.3807A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.433A>C
  hgvsp: ENST00000438952.1:c.433A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1308Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-34011336-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011336
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011336
    reference: chr 21
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3914C>G
  hgvsp: ENSP00000371939.2:p.Pro1305Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3797C>G
  hgvsp: ENSP00000322234.7:p.Pro1266Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3914C>G
  hgvsp: ENSP00000409667.2:p.Pro1305Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3656C>G
  hgvsp: ENSP00000371931.3:p.Pro1219Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3749C>G
  hgvsp: ENSP00000349903.3:p.Pro1250Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.354C>G
  hgvsp: ENSP00000413480.1:p.Pro119Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.259C>G
  hgvsp: ENSP00000387868.1:p.Pro87Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.423C>G
  hgvsp: ENSP00000388869.1:p.Pro142Arg
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1305Arg
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: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/21-34011344-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011344
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011344
    reference: chr 21
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.346T>G
  hgvsp: ENST00000416083.1:c.346T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3648T>G
  hgvsp: ENST00000382491.3:c.3648T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.251T>G
  hgvsp: ENST00000418301.1:c.251T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3906T>G
  hgvsp: ENST00000433931.2:c.3906T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.415T>G
  hgvsp: ENST00000438952.1:c.415T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3906T>G
  hgvsp: ENST00000382499.2:c.3906T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3789T>G
  hgvsp: ENST00000322229.7:c.3789T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3741T>G
  hgvsp: ENST00000357345.3:c.3741T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1302Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

21-34011345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011345
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011345
    reference: chr 21
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.414C>T
  hgvsp: ENSP00000388869.1:p.Pro139Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3647C>T
  hgvsp: ENSP00000371931.3:p.Pro1216Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.345C>T
  hgvsp: ENSP00000413480.1:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.250C>T
  hgvsp: ENSP00000387868.1:p.Pro84Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3740C>T
  hgvsp: ENSP00000349903.3:p.Pro1247Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3905C>T
  hgvsp: ENSP00000409667.2:p.Pro1302Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3788C>T
  hgvsp: ENSP00000322234.7:p.Pro1263Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3905C>T
  hgvsp: ENSP00000371939.2:p.Pro1302Leu
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1302Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

21-34011346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011346
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011346
    reference: chr 21
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.413C>T
  hgvsp: ENSP00000388869.1:p.Pro139Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3739C>T
  hgvsp: ENSP00000349903.3:p.Pro1247Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.344C>T
  hgvsp: ENSP00000413480.1:p.Pro116Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3646C>T
  hgvsp: ENSP00000371931.3:p.Pro1216Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3904C>T
  hgvsp: ENSP00000371939.2:p.Pro1302Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.249C>T
  hgvsp: ENSP00000387868.1:p.Pro84Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3787C>T
  hgvsp: ENSP00000322234.7:p.Pro1263Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3904C>T
  hgvsp: ENSP00000409667.2:p.Pro1302Ser
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10297
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1302Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

21-34011347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011347
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011347
    reference: chr 21
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3645G>A
  hgvsp: ENST00000382491.3:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.343G>A
  hgvsp: ENST00000416083.1:c.343G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.412G>A
  hgvsp: ENST00000438952.1:c.412G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.248G>A
  hgvsp: ENST00000418301.1:c.248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3786G>A
  hgvsp: ENST00000322229.7:c.3786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3903G>A
  hgvsp: ENST00000433931.2:c.3903G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3903G>A
  hgvsp: ENST00000382499.2:c.3903G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3738G>A
  hgvsp: ENST00000357345.3:c.3738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu1301Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/21-34011353-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011353
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011353
    reference: chr 21
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.242G>T
  hgvsp: ENSP00000387868.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3897G>T
  hgvsp: ENSP00000409667.2:p.Leu1299Phe
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3732G>T
  hgvsp: ENSP00000349903.3:p.Leu1244Phe
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.406G>T
  hgvsp: ENSP00000388869.1:p.Leu136Phe
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3639G>T
  hgvsp: ENSP00000371931.3:p.Leu1213Phe
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3780G>T
  hgvsp: ENSP00000322234.7:p.Leu1260Phe
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3897G>T
  hgvsp: ENSP00000371939.2:p.Leu1299Phe
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.337G>T
  hgvsp: ENSP00000413480.1:p.Leu113Phe
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1299Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

21-34011363-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011363
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011363
    reference: chr 21
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.396C>A
  hgvsp: ENSP00000388869.1:p.Ala133Asp
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3770C>A
  hgvsp: ENSP00000322234.7:p.Ala1257Asp
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3887C>A
  hgvsp: ENSP00000371939.2:p.Ala1296Asp
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.232C>A
  hgvsp: ENSP00000387868.1:p.Ala78Asp
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3722C>A
  hgvsp: ENSP00000349903.3:p.Ala1241Asp
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3887C>A
  hgvsp: ENSP00000409667.2:p.Ala1296Asp
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.327C>A
  hgvsp: ENSP00000413480.1:p.Ala110Asp
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3629C>A
  hgvsp: ENSP00000371931.3:p.Ala1210Asp
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1296Asp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

21-34011366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011366
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011366
    reference: chr 21
allele count: 5
allele frequency: 4.119091163725636e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.393C>T
  hgvsp: ENSP00000388869.1:p.Pro132Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3884C>T
  hgvsp: ENSP00000371939.2:p.Pro1295Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3884C>T
  hgvsp: ENSP00000409667.2:p.Pro1295Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3719C>T
  hgvsp: ENSP00000349903.3:p.Pro1240Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3626C>T
  hgvsp: ENSP00000371931.3:p.Pro1209Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.229C>T
  hgvsp: ENSP00000387868.1:p.Pro77Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3767C>T
  hgvsp: ENSP00000322234.7:p.Pro1256Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.324C>T
  hgvsp: ENSP00000413480.1:p.Pro109Leu
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1295Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

21-34011367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011367
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011367
    reference: chr 21
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.323C>T
  hgvsp: ENSP00000413480.1:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3883C>T
  hgvsp: ENSP00000371939.2:p.Pro1295Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3625C>T
  hgvsp: ENSP00000371931.3:p.Pro1209Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3766C>T
  hgvsp: ENSP00000322234.7:p.Pro1256Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3883C>T
  hgvsp: ENSP00000409667.2:p.Pro1295Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.228C>T
  hgvsp: ENSP00000387868.1:p.Pro77Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.392C>T
  hgvsp: ENSP00000388869.1:p.Pro132Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3718C>T
  hgvsp: ENSP00000349903.3:p.Pro1240Ser
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1295Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

21-34011367-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011367
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011368
    reference: chr 21
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3717dupG
  hgvsp: ENSP00000349903.3:p.Pro1240AlafsTer40
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3765dupG
  hgvsp: ENSP00000322234.7:p.Pro1256AlafsTer40
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.227dupG
  hgvsp: ENSP00000387868.1:p.Pro77AlafsTer40
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3882dupG
  hgvsp: ENSP00000371939.2:p.Pro1295AlafsTer40
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.391dupG
  hgvsp: ENSP00000388869.1:p.Pro132AlafsTer40
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3882dupG
  hgvsp: ENSP00000409667.2:p.Pro1295AlafsTer40
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.322dupG
  hgvsp: ENSP00000413480.1:p.Pro109AlafsTer?
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3624dupG
  hgvsp: ENSP00000371931.3:p.Pro1209AlafsTer40
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1295AlafsTer40
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

21-34011368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011368
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011368
    reference: chr 21
allele count: 7
allele frequency: 5.767012687427912e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3717G>A
  hgvsp: ENST00000357345.3:c.3717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3882G>A
  hgvsp: ENST00000433931.2:c.3882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3765G>A
  hgvsp: ENST00000322229.7:c.3765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3882G>A
  hgvsp: ENST00000382499.2:c.3882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.391G>A
  hgvsp: ENST00000438952.1:c.391G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3624G>A
  hgvsp: ENST00000382491.3:c.3624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.227G>A
  hgvsp: ENST00000418301.1:c.227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.322G>A
  hgvsp: ENST00000416083.1:c.322G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10287
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1294Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

21-34011369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011369
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011369
    reference: chr 21
allele count: 18
allele frequency: 1.482921685258111e-4
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.226C>T
  hgvsp: ENSP00000387868.1:p.Pro76Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3623C>T
  hgvsp: ENSP00000371931.3:p.Pro1208Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3764C>T
  hgvsp: ENSP00000322234.7:p.Pro1255Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.390C>T
  hgvsp: ENSP00000388869.1:p.Pro131Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3881C>T
  hgvsp: ENSP00000371939.2:p.Pro1294Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3716C>T
  hgvsp: ENSP00000349903.3:p.Pro1239Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.321C>T
  hgvsp: ENSP00000413480.1:p.Pro108Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3881C>T
  hgvsp: ENSP00000409667.2:p.Pro1294Leu
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19056
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10281
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro1294Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

21-34011369-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011369
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011369
    reference: chr 21
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3764C>G
  hgvsp: ENSP00000322234.7:p.Pro1255Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3881C>G
  hgvsp: ENSP00000409667.2:p.Pro1294Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.321C>G
  hgvsp: ENSP00000413480.1:p.Pro108Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.226C>G
  hgvsp: ENSP00000387868.1:p.Pro76Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3881C>G
  hgvsp: ENSP00000371939.2:p.Pro1294Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3623C>G
  hgvsp: ENSP00000371931.3:p.Pro1208Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3716C>G
  hgvsp: ENSP00000349903.3:p.Pro1239Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.390C>G
  hgvsp: ENSP00000388869.1:p.Pro131Arg
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1294Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

21-34011371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011371
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011371
    reference: chr 21
allele count: 8
allele frequency: 6.59108884787767e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.224C>T
  hgvsp: ENST00000418301.1:c.224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3621C>T
  hgvsp: ENST00000382491.3:c.3621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3879C>T
  hgvsp: ENST00000433931.2:c.3879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.388C>T
  hgvsp: ENST00000438952.1:c.388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3879C>T
  hgvsp: ENST00000382499.2:c.3879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.319C>T
  hgvsp: ENST00000416083.1:c.319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3762C>T
  hgvsp: ENST00000322229.7:c.3762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3714C>T
  hgvsp: ENST00000357345.3:c.3714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1293Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

21-34011373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011373
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011373
    reference: chr 21
allele count: 6
allele frequency: 4.943561011782154e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3619C>T
  hgvsp: ENSP00000371931.3:p.Pro1207Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.317C>T
  hgvsp: ENSP00000413480.1:p.Pro107Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3760C>T
  hgvsp: ENSP00000322234.7:p.Pro1254Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3877C>T
  hgvsp: ENSP00000371939.2:p.Pro1293Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.222C>T
  hgvsp: ENSP00000387868.1:p.Pro75Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3877C>T
  hgvsp: ENSP00000409667.2:p.Pro1293Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.386C>T
  hgvsp: ENSP00000388869.1:p.Pro130Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3712C>T
  hgvsp: ENSP00000349903.3:p.Pro1238Ser
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1293Ser
num of homozygotes: 1
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-34011380-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011380
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011380
    reference: chr 21
allele count: 17
allele frequency: 1.400906468891636e-4
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.310T>G
  hgvsp: ENST00000416083.1:c.310T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.215T>G
  hgvsp: ENST00000418301.1:c.215T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.379T>G
  hgvsp: ENST00000438952.1:c.379T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3870T>G
  hgvsp: ENST00000382499.2:c.3870T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3753T>G
  hgvsp: ENST00000322229.7:c.3753T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3870T>G
  hgvsp: ENST00000433931.2:c.3870T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3612T>G
  hgvsp: ENST00000382491.3:c.3612T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3705T>G
  hgvsp: ENST00000357345.3:c.3705T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1290Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-34011381-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011381
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011381
    reference: chr 21
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3752C>G
  hgvsp: ENSP00000322234.7:p.Ser1251Cys
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.378C>G
  hgvsp: ENSP00000388869.1:p.Ser127Cys
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3869C>G
  hgvsp: ENSP00000409667.2:p.Ser1290Cys
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3611C>G
  hgvsp: ENSP00000371931.3:p.Ser1204Cys
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.214C>G
  hgvsp: ENSP00000387868.1:p.Ser72Cys
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3869C>G
  hgvsp: ENSP00000371939.2:p.Ser1290Cys
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3704C>G
  hgvsp: ENSP00000349903.3:p.Ser1235Cys
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.309C>G
  hgvsp: ENSP00000413480.1:p.Ser104Cys
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser1290Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/21-34011386-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011386
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011386
    reference: chr 21
allele count: 4
allele frequency: 3.296848213108268e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3864G>T
  hgvsp: ENST00000433931.2:c.3864G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.209G>T
  hgvsp: ENST00000418301.1:c.209G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3699G>T
  hgvsp: ENST00000357345.3:c.3699G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3606G>T
  hgvsp: ENST00000382491.3:c.3606G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.373G>T
  hgvsp: ENST00000438952.1:c.373G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.304G>T
  hgvsp: ENST00000416083.1:c.304G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3864G>T
  hgvsp: ENST00000382499.2:c.3864G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3747G>T
  hgvsp: ENST00000322229.7:c.3747G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19048
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1288Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-34011386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011386
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011386
    reference: chr 21
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.373G>A
  hgvsp: ENST00000438952.1:c.373G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.209G>A
  hgvsp: ENST00000418301.1:c.209G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3606G>A
  hgvsp: ENST00000382491.3:c.3606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3747G>A
  hgvsp: ENST00000322229.7:c.3747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.304G>A
  hgvsp: ENST00000416083.1:c.304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3864G>A
  hgvsp: ENST00000382499.2:c.3864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3699G>A
  hgvsp: ENST00000357345.3:c.3699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3864G>A
  hgvsp: ENST00000433931.2:c.3864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro1288Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

21-34011387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011387
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011387
    reference: chr 21
allele count: 38
allele frequency: 3.132263967424455e-4
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3605C>T
  hgvsp: ENSP00000371931.3:p.Pro1202Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.372C>T
  hgvsp: ENSP00000388869.1:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3863C>T
  hgvsp: ENSP00000409667.2:p.Pro1288Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3698C>T
  hgvsp: ENSP00000349903.3:p.Pro1233Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3746C>T
  hgvsp: ENSP00000322234.7:p.Pro1249Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.303C>T
  hgvsp: ENSP00000413480.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.208C>T
  hgvsp: ENSP00000387868.1:p.Pro70Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3863C>T
  hgvsp: ENSP00000371939.2:p.Pro1288Leu
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15759
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1288Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-34011390-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011390
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011390
    reference: chr 21
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3695C>G
  hgvsp: ENSP00000349903.3:p.Pro1232Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.300C>G
  hgvsp: ENSP00000413480.1:p.Pro101Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.205C>G
  hgvsp: ENSP00000387868.1:p.Pro69Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3860C>G
  hgvsp: ENSP00000371939.2:p.Pro1287Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3743C>G
  hgvsp: ENSP00000322234.7:p.Pro1248Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.369C>G
  hgvsp: ENSP00000388869.1:p.Pro124Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3860C>G
  hgvsp: ENSP00000409667.2:p.Pro1287Arg
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3602C>G
  hgvsp: ENSP00000371931.3:p.Pro1201Arg
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1287Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

21-34011401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011401
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011401
    reference: chr 21
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.289G>A
  hgvsp: ENST00000416083.1:c.289G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.194G>A
  hgvsp: ENST00000418301.1:c.194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3591G>A
  hgvsp: ENST00000382491.3:c.3591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3849G>A
  hgvsp: ENST00000382499.2:c.3849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3849G>A
  hgvsp: ENST00000433931.2:c.3849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3684G>A
  hgvsp: ENST00000357345.3:c.3684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.358G>A
  hgvsp: ENST00000438952.1:c.358G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3732G>A
  hgvsp: ENST00000322229.7:c.3732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10211
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln1283Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

21-34011411-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011411
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011411
    reference: chr 21
allele count: 3
allele frequency: 2.477659767760691e-5
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3839T>C
  hgvsp: ENSP00000371939.2:p.Leu1280Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3581T>C
  hgvsp: ENSP00000371931.3:p.Leu1194Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3839T>C
  hgvsp: ENSP00000409667.2:p.Leu1280Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3674T>C
  hgvsp: ENSP00000349903.3:p.Leu1225Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.184T>C
  hgvsp: ENSP00000387868.1:p.Leu62Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3722T>C
  hgvsp: ENSP00000322234.7:p.Leu1241Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.348T>C
  hgvsp: ENSP00000388869.1:p.Leu117Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.279T>C
  hgvsp: ENSP00000413480.1:p.Leu94Pro
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1280Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

21-34011412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011412
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011412
    reference: chr 21
allele count: 8847
allele frequency: 7.308187946074544e-2
allele num: 121056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3673C>T
  hgvsp: ENST00000357345.3:c.3673C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.347C>T
  hgvsp: ENST00000438952.1:c.347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3838C>T
  hgvsp: ENST00000433931.2:c.3838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3580C>T
  hgvsp: ENST00000382491.3:c.3580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.183C>T
  hgvsp: ENST00000418301.1:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3838C>T
  hgvsp: ENST00000382499.2:c.3838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3721C>T
  hgvsp: ENST00000322229.7:c.3721C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.278C>T
  hgvsp: ENST00000416083.1:c.278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18841
  bin: 2.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 9.75e1
  variant carriers: 5131
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.25e1
  variant carriers: 423
genotype depth: GenotypeDepth
  all individuals: 15656
  bin: 3.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.25e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 3.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 313
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 275
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8181
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu1280Leu
num of homozygotes: 413
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

21-34011412-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011412
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011412
    reference: chr 21
allele count: 23
allele frequency: 1.899947131905895e-4
allele num: 121056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3673C>A
  hgvsp: ENSP00000349903.3:p.Leu1225Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3721C>A
  hgvsp: ENSP00000322234.7:p.Leu1241Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3838C>A
  hgvsp: ENSP00000371939.2:p.Leu1280Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.278C>A
  hgvsp: ENSP00000413480.1:p.Leu94Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.183C>A
  hgvsp: ENSP00000387868.1:p.Leu62Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.347C>A
  hgvsp: ENSP00000388869.1:p.Leu117Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3838C>A
  hgvsp: ENSP00000409667.2:p.Leu1280Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3580C>A
  hgvsp: ENSP00000371931.3:p.Leu1194Met
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 15656
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1280Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-34011414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011414
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011414
    reference: chr 21
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3836C>T
  hgvsp: ENSP00000409667.2:p.Pro1279Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.181C>T
  hgvsp: ENSP00000387868.1:p.Pro61Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3671C>T
  hgvsp: ENSP00000349903.3:p.Pro1224Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3578C>T
  hgvsp: ENSP00000371931.3:p.Pro1193Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.276C>T
  hgvsp: ENSP00000413480.1:p.Pro93Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3719C>T
  hgvsp: ENSP00000322234.7:p.Pro1240Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3836C>T
  hgvsp: ENSP00000371939.2:p.Pro1279Leu
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.345C>T
  hgvsp: ENSP00000388869.1:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1279Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

21-34011415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011415
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011415
    reference: chr 21
allele count: 2
allele frequency: 1.653739932858159e-5
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3718C>T
  hgvsp: ENSP00000322234.7:p.Pro1240Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3577C>T
  hgvsp: ENSP00000371931.3:p.Pro1193Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3670C>T
  hgvsp: ENSP00000349903.3:p.Pro1224Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.344C>T
  hgvsp: ENSP00000388869.1:p.Pro116Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.275C>T
  hgvsp: ENSP00000413480.1:p.Pro93Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.180C>T
  hgvsp: ENSP00000387868.1:p.Pro61Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3835C>T
  hgvsp: ENSP00000371939.2:p.Pro1279Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3835C>T
  hgvsp: ENSP00000409667.2:p.Pro1279Ser
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1279Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

21-34011430-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011430
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011430
    reference: chr 21
allele count: 2
allele frequency: 1.662040653514385e-5
allele num: 120334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.165A>T
  hgvsp: ENSP00000387868.1:p.Thr56Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.329A>T
  hgvsp: ENSP00000388869.1:p.Thr111Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.260A>T
  hgvsp: ENSP00000413480.1:p.Thr88Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3703A>T
  hgvsp: ENSP00000322234.7:p.Thr1235Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3820A>T
  hgvsp: ENSP00000409667.2:p.Thr1274Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3655A>T
  hgvsp: ENSP00000349903.3:p.Thr1219Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3820A>T
  hgvsp: ENSP00000371939.2:p.Thr1274Ser
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3562A>T
  hgvsp: ENSP00000371931.3:p.Thr1188Ser
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1274Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

21-34011430-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011430
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011430
    reference: chr 21
allele count: 6
allele frequency: 4.986121960543155e-5
allele num: 120334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.165A>G
  hgvsp: ENSP00000387868.1:p.Thr56Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3655A>G
  hgvsp: ENSP00000349903.3:p.Thr1219Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3820A>G
  hgvsp: ENSP00000409667.2:p.Thr1274Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.260A>G
  hgvsp: ENSP00000413480.1:p.Thr88Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.329A>G
  hgvsp: ENSP00000388869.1:p.Thr111Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3562A>G
  hgvsp: ENSP00000371931.3:p.Thr1188Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3703A>G
  hgvsp: ENSP00000322234.7:p.Thr1235Ala
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3820A>G
  hgvsp: ENSP00000371939.2:p.Thr1274Ala
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21743
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9417
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1274Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

21-34011436-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011436
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011437
    reference: chr 21
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-2dupA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-2dupA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-2dupA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-2dupA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-2dupA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-2dupA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-2dupA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-2dupA
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21548
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
hgvs: c.3815-2dupA
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-34011437-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011437
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011436
    reference: chr 21
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-3delT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-3delT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-3delT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-3delT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-3delT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-3delT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-3delT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-3delT
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
hgvs: c.3815-3delT
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: TA
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/21-34011444-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011444
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011444
    reference: chr 21
allele count: 1
allele frequency: 8.414108777598277e-6
allele num: 118848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-9G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-9G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-9G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-9G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-9G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-9G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-9G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-9G>T
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

21-34011459-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011459
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011459
    reference: chr 21
allele count: 1
allele frequency: 8.60037497634897e-6
allele num: 116274
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-24A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-24A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-24A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-24A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-24A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-24A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-24A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-24A>T
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31790
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

21-34011460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011460
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011460
    reference: chr 21
allele count: 5
allele frequency: 4.307522657569179e-5
allele num: 116076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-25C>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-25C>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-25C>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-25C>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-25C>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-25C>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-25C>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-25C>T
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15641
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS

21-34011469-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011469
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011469
    reference: chr 21
allele count: 1
allele frequency: 8.7921363132814e-6
allele num: 113738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-34T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-34T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-34T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-34T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-34T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-34T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-34T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-34T>C
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/21-34011472-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011472
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011472
    reference: chr 21
allele count: 9
allele frequency: 7.966011683483802e-5
allele num: 112980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-37G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-37G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-37G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-37G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-37G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-37G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-37G>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-37G>T
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

21-34011475-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011475
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011476
    reference: chr 21
allele count: 1
allele frequency: 8.901231930499181e-6
allele num: 112344
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-41dupT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-41dupT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-41dupT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-41dupT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-41dupT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-41dupT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-41dupT
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-41dupT
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

21-34011484-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011484
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011483
    reference: chr 21
allele count: 1
allele frequency: 9.184423218221895e-6
allele num: 108880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-50delA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-50delA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-50delA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-50delA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-50delA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-50delA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-50delA
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-50delA
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: GT
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

21-34011486-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011486
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011486
    reference: chr 21
allele count: 1
allele frequency: 9.248298313110388e-6
allele num: 108128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-51A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-51A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-51A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-51A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-51A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-51A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-51A>T
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-51A>T
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6014
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

21-34011486-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011486
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011486
    reference: chr 21
allele count: 1
allele frequency: 9.248298313110388e-6
allele num: 108128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.324-51A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3650-51A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.160-51A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3815-51A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3557-51A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3698-51A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3815-51A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.255-51A>G
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6014
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6822
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-34011940-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011940
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011940
    reference: chr 21
allele count: 1
allele frequency: 8.356313194618534e-6
allele num: 119670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3556+41A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3697+41A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.159+41A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3649+41A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.254+41A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3814+41A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3814+41A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.323+41A>G
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21211
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

21-34011945-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011945
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011945
    reference: chr 21
allele count: 1
allele frequency: 8.373946976167747e-6
allele num: 119418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3556+36A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.323+36A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3697+36A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.159+36A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3814+36A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.254+36A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3649+36A>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3814+36A>G
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24423
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-34011950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011950
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011950
    reference: chr 21
allele count: 3
allele frequency: 2.498001598721023e-5
allele num: 120096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3649+31G>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3697+31G>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.323+31G>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.159+31G>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3814+31G>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3814+31G>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.254+31G>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3556+31G>A
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22946
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

21-34011955-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011955
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011955
    reference: chr 21
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.254+26C>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3556+26C>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.323+26C>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3697+26C>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3814+26C>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.159+26C>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3814+26C>A
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3649+26C>A
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/21-34011969-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011969
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011969
    reference: chr 21
allele count: 10
allele frequency: 8.266512358435976e-5
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.159+12T>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3649+12T>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3697+12T>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3814+12T>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.254+12T>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3814+12T>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3556+12T>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.323+12T>G
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24499
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

21-34011970-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011970
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011970
    reference: chr 21
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.323+11T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3814+11T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3556+11T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3649+11T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3697+11T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.254+11T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.159+11T>C
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3814+11T>C
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6300
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

21-34011971-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011971
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011971
    reference: chr 21
allele count: 25
allele frequency: 2.065876675425984e-4
allele num: 121014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3814+10C>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3814+10C>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3556+10C>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.323+10C>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.159+10C>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3697+10C>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.254+10C>G
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3649+10C>G
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25870
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24544
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48008
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

21-34011985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011985
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011985
    reference: chr 21
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3810G>A
  hgvsp: ENST00000433931.2:c.3810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.319G>A
  hgvsp: ENST00000438952.1:c.319G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3810G>A
  hgvsp: ENST00000382499.2:c.3810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.155G>A
  hgvsp: ENST00000418301.1:c.155G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3693G>A
  hgvsp: ENST00000322229.7:c.3693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3552G>A
  hgvsp: ENST00000382491.3:c.3552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3645G>A
  hgvsp: ENST00000357345.3:c.3645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.250G>A
  hgvsp: ENST00000416083.1:c.250G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser1270Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

21-34011987-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011987
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011987
    reference: chr 21
allele count: 8
allele frequency: 6.599462143835277e-5
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.153T>C
  hgvsp: ENSP00000387868.1:p.Ser52Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.317T>C
  hgvsp: ENSP00000388869.1:p.Ser107Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3808T>C
  hgvsp: ENSP00000371939.2:p.Ser1270Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3643T>C
  hgvsp: ENSP00000349903.3:p.Ser1215Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3691T>C
  hgvsp: ENSP00000322234.7:p.Ser1231Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3550T>C
  hgvsp: ENSP00000371931.3:p.Ser1184Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.248T>C
  hgvsp: ENSP00000413480.1:p.Ser84Pro
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3808T>C
  hgvsp: ENSP00000409667.2:p.Ser1270Pro
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1270Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

21-34011989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34011989
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34011989
    reference: chr 21
allele count: 3
allele frequency: 2.474349246148263e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371939
  ensembl transcript: ENST00000382499
  gene symbol: SYNJ1
  hgvsc: ENST00000382499.2:c.3806C>T
  hgvsp: ENSP00000371939.2:p.Thr1269Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000409667
  ensembl transcript: ENST00000433931
  gene symbol: SYNJ1
  hgvsc: ENST00000433931.2:c.3806C>T
  hgvsp: ENSP00000409667.2:p.Thr1269Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000371931
  ensembl transcript: ENST00000382491
  gene symbol: SYNJ1
  hgvsc: ENST00000382491.3:c.3548C>T
  hgvsp: ENSP00000371931.3:p.Thr1183Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000349903
  ensembl transcript: ENST00000357345
  gene symbol: SYNJ1
  hgvsc: ENST00000357345.3:c.3641C>T
  hgvsp: ENSP00000349903.3:p.Thr1214Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000388869
  ensembl transcript: ENST00000438952
  gene symbol: SYNJ1
  hgvsc: ENST00000438952.1:c.315C>T
  hgvsp: ENSP00000388869.1:p.Thr106Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000322234
  ensembl transcript: ENST00000322229
  gene symbol: SYNJ1
  hgvsc: ENST00000322229.7:c.3689C>T
  hgvsp: ENSP00000322234.7:p.Thr1230Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000413480
  ensembl transcript: ENST00000416083
  gene symbol: SYNJ1
  hgvsc: ENST00000416083.1:c.246C>T
  hgvsp: ENSP00000413480.1:p.Thr83Met
  variant of: http://identifiers.org/hgnc/11503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159082
  ensembl protein: ENSP00000387868
  ensembl transcript: ENST00000418301
  gene symbol: SYNJ1
  hgvsc: ENST00000418301.1:c.151C>T
  hgvsp: ENSP00000387868.1:p.Thr51Met
  variant of: http://identifiers.org/hgnc/11503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr1269Met
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 32473
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10336
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.553457592131625e-5
allele num: 65884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e0

DP
type: SiteQuality
SIO_000300: 2.451283e6

QD
type: SiteQuality
SIO_000300: 1.227e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.073e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32843
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10331
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14686
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515656734062869e-5
allele num: 65978
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

QD
type: SiteQuality
SIO_000300: 1.119e1

VQSLOD
type: SiteQuality
SIO_000300: -1.383e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.057e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.64e-2

DP
type: SiteQuality
SIO_000300: 2.454014e6

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33054
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-2

DP
type: SiteQuality
SIO_000300: 2.458339e6

FS
type: SiteQuality
SIO_000300: 1.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeQuality
all individuals: 10331
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33966
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005259203606311e-5
allele num: 66550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

DP
type: SiteQuality
SIO_000300: 2.478692e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.235e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.276e0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10333
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 879
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.253e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.565e0

DP
type: SiteQuality
SIO_000300: 2.480002e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10331
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1562
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

East Asian
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South Asian
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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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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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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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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African
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allele num: 10406
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East Asian
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allele num: 8654
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Latino
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Other
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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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European (Finnish)
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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DP
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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South Asian
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InbreedingCoeff
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MQRankSum
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DP
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 4.67e-1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.001110410852015e-5
allele num: 66642
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African
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South Asian
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Latino
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.101e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

Other
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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African
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Other
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East Asian
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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ClippingRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Latino
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Other
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South Asian
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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FS
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InbreedingCoeff
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DP
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SIO_000300: 2.483541e6

ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
type: SiteQuality
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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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bin: 6.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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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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num of homozygotes: 0

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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European (Non-Finnish)
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allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

European (Non-Finnish)
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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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European (Finnish)
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num of homozygotes: 0

African
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Latino
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Other
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VQSLOD
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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South Asian
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Other
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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
allele num: 11578
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European (Non-Finnish)
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allele frequency: 7.494004796163069e-5
allele num: 66720
num of homozygotes: 0

MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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SIO_000300: -9.56e-1

FS
type: SiteQuality
SIO_000300: 1.784e0

DP
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GenotypeQuality
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variant carriers: 4

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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South Asian
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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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European (Non-Finnish)
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allele frequency: 5.994485073732166e-5
allele num: 66728
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QD
type: SiteQuality
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
type: SiteQuality
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ClippingRankSum
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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.994305409860632e-5
allele num: 66730
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South Asian
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allele frequency: 0.0e0
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Other
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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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allele num: 66734
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South Asian
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16510
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Latino
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East Asian
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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QD
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MQ
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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East Asian
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Other
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African
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European (Finnish)
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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SIO_000300: -3.32e-1

FS
type: SiteQuality
SIO_000300: 1.086e0

QD
type: SiteQuality
SIO_000300: 1.392e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.411e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

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

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8399
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 2.480911e6

FS
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.396e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 1552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.480868e6

QD
type: SiteQuality
SIO_000300: 1.283e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.581e0

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8399
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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: 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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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10296
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.844e0

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.649e0

DP
type: SiteQuality
SIO_000300: 2.480672e6

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 9.52e0

GenotypeQuality
all individuals: 603
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34447
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

VQSLOD
type: SiteQuality
SIO_000300: -1.603e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 7.418e0

DP
type: SiteQuality
SIO_000300: 2.480007e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49243264303054e-5
allele num: 66734
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.636e0

DP
type: SiteQuality
SIO_000300: 2.479947e6

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.479446e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.242e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

FS
type: SiteQuality
SIO_000300: 3.686e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.079e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10289
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variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

FS
type: SiteQuality
SIO_000300: 3.686e0

QD
type: SiteQuality
SIO_000300: 1.242e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.079e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

DP
type: SiteQuality
SIO_000300: 2.479446e6

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
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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: 870
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GenotypeQuality
all individuals: 2450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.151e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 1.964e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 2.479694e6

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
all individuals: 7
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 603
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GenotypeQuality
all individuals: 2447
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GenotypeQuality
all individuals: 34478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 15
allele frequency: 2.247662431071685e-4
allele num: 66736
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.316e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

DP
type: SiteQuality
SIO_000300: 2.48043e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
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SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.77e-1

BaseQRankSum
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SIO_000300: 1.55e0

ReadPosRankSum
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SIO_000300: 3.4e-1

ClippingRankSum
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MQRankSum
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QD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198897014746433e-4
allele num: 66728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.477506e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.636363636363636e-4
allele num: 16500
num of homozygotes: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.673e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e0

DP
type: SiteQuality
SIO_000300: 2.476619e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

FS
type: SiteQuality
SIO_000300: 6.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.28e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.248201438848921e-4
allele num: 66720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 2.162e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.328e0

QD
type: SiteQuality
SIO_000300: 1.169e1

DP
type: SiteQuality
SIO_000300: 2.476467e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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Other
type: Population
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allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.474596e6

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.927525057825752e-4
allele num: 10376
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 908
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.474231e6

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

ReadPosRankSum
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SIO_000300: 9.53e-1

GenotypeQuality
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variant carriers: 1

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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Other
type: Population
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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MQ
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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bin: 9.75e1
variant carriers: 38

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

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 15
allele frequency: 9.096422073984233e-4
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.848234094861186e-4
allele num: 66708
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.474805e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.885e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 2.471949e6

FS
type: SiteQuality
SIO_000300: 3.086e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.271e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 2.470379e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.238e0

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 871
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10211
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.467351e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.198e0

QD
type: SiteQuality
SIO_000300: 1.575e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

GenotypeQuality
all individuals: 11284
bin: 9.75e1
variant carriers: 8419

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 33634
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 824
bin: 9.25e1
variant carriers: 3

Latino
type: Population
allele count: 430
allele frequency: 3.717150760719225e-2
allele num: 11568
num of homozygotes: 8

Other
type: Population
allele count: 72
allele frequency: 7.964601769911504e-2
allele num: 904
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 6473
allele frequency: 9.716301410987692e-2
allele num: 66620
num of homozygotes: 316

South Asian
type: Population
allele count: 1094
allele frequency: 6.665042037285245e-2
allele num: 16414
num of homozygotes: 54

European (Finnish)
type: Population
allele count: 560
allele frequency: 8.472012102874432e-2
allele num: 6610
num of homozygotes: 27

East Asian
type: Population
allele count: 63
allele frequency: 7.296733842946491e-3
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 155
allele frequency: 1.503978265088298e-2
allele num: 10306
num of homozygotes: 2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.426e0

DP
type: SiteQuality
SIO_000300: 2.552753e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.486e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 1907
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33634
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

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

GenotypeQuality
all individuals: 824
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 8181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11284
bin: 9.75e1
variant carriers: 23

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 1.401242841476788e-3
allele num: 16414
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

DP
type: SiteQuality
SIO_000300: 2.552753e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.426e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

GenotypeQuality
all individuals: 645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9522
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 949
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variant carriers: 0

GenotypeQuality
all individuals: 447
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.725734292939116e-5
allele num: 10282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.137e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.308e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.910318e6

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 38838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004536850644473e-5
allele num: 66566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.145e1

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

DP
type: SiteQuality
SIO_000300: 1.9101e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.319e0

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
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variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 38058
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GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 2668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.25e1
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GenotypeQuality
all individuals: 948
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.237930180737806e-4
allele num: 16156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.896803e6

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

QD
type: SiteQuality
SIO_000300: 1.737e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 9.25e1
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GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.094825451844516e-4
allele num: 16156
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507477086348288e-5
allele num: 66336
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

QD
type: SiteQuality
SIO_000300: 1.737e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 1.896803e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1632
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 641
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511487303506651e-5
allele num: 66160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

QD
type: SiteQuality
SIO_000300: 2.628e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.743e0

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

FS
type: SiteQuality
SIO_000300: 4.409e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.886077e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

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

GenotypeQuality
all individuals: 9233
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 937
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variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-5
allele num: 66120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15894
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

MQ
type: SiteQuality
SIO_000300: 6.02e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.88398e6

QD
type: SiteQuality
SIO_000300: 7.58e0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.460783046905285e-5
allele num: 15478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.358e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.609e0

DP
type: SiteQuality
SIO_000300: 1.861382e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.171e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: -2.997e0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2478
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6766
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8106
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variant carriers: 0

GenotypeQuality
all individuals: 1935
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variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 614
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variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
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variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545451735542299e-5
allele num: 64706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.126e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.762696e6

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 31269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
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variant carriers: 0

GenotypeQuality
all individuals: 1911
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variant carriers: 0

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 7003
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 443
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variant carriers: 0

GenotypeQuality
all individuals: 3268
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 611
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variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.645502645502646e-4
allele num: 11340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.84931506849315e-5
allele num: 14600
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54765221159501e-5
allele num: 64614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.346e1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.432e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.753052e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1081
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 24450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
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GenotypeQuality
all individuals: 893
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variant carriers: 0

GenotypeQuality
all individuals: 6648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
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variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
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variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573712703008939e-5
allele num: 63544
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.618956e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

VQSLOD
type: SiteQuality
SIO_000300: -1.143e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.561e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.723e1

GenotypeQuality
all individuals: 6441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.5e0
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GenotypeQuality
all individuals: 2633
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variant carriers: 0

GenotypeQuality
all individuals: 440
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GenotypeQuality
all individuals: 1576
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variant carriers: 0

GenotypeQuality
all individuals: 1751
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variant carriers: 0

GenotypeQuality
all individuals: 1934
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variant carriers: 0

GenotypeQuality
all individuals: 885
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variant carriers: 0

GenotypeQuality
all individuals: 600
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variant carriers: 0

GenotypeQuality
all individuals: 9124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63198
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.312913907284768e-4
allele num: 9664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13632
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 6.495e0

DP
type: SiteQuality
SIO_000300: 1.593248e6

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.789e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.459e1

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.5e0
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GenotypeQuality
all individuals: 3241
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variant carriers: 1

GenotypeQuality
all individuals: 884
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variant carriers: 0

GenotypeQuality
all individuals: 315
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GenotypeQuality
all individuals: 2333
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GenotypeQuality
all individuals: 1565
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GenotypeQuality
all individuals: 20659
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variant carriers: 0

GenotypeQuality
all individuals: 662
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variant carriers: 0

GenotypeQuality
all individuals: 6062
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589875671722471e-5
allele num: 62898
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.035e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

QD
type: SiteQuality
SIO_000300: 9.19e0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 4.283e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.557111e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

GenotypeQuality
all individuals: 339
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5804
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3666
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10509
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variant carriers: 0

GenotypeQuality
all individuals: 3231
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variant carriers: 1

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 589
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variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635429954535047e-5
allele num: 61146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.135e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

DP
type: SiteQuality
SIO_000300: 1.485214e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.646469968387776e-5
allele num: 60736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 1.476873e6

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7590
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.547029702970297e-4
allele num: 6464
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10856
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60736
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.476873e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.077e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65860
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.037e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.323e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.504e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 1.540894e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2130
bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65760
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.279829188646068e-5
allele num: 15924
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.56892e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 4.242e0

VQSLOD
type: SiteQuality
SIO_000300: -1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.08e0

MQ
type: SiteQuality
SIO_000300: 5.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025810160670519e-5
allele num: 66098
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

DP
type: SiteQuality
SIO_000300: 1.584124e6

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.482e1

MQ
type: SiteQuality
SIO_000300: 5.859e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 6.941e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
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South Asian
type: Population
allele count: 1
allele frequency: 6.178178672927221e-5
allele num: 16186
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Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.04e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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South Asian
type: Population
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Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.353831342699841e-4
allele num: 66478
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.615687e6

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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African
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allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
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South Asian
type: Population
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Other
type: Population
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QD
type: SiteQuality
SIO_000300: 3.106e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 3.066e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.616241e6

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: 9.75e1
variant carriers: 23

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66504
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Other
type: Population
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South Asian
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allele count: 25
allele frequency: 1.520866285436185e-3
allele num: 16438
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DP
type: SiteQuality
SIO_000300: 1.617154e6

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.61e-2

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

GenotypeQuality
all individuals: 602
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1287
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.519e0

FS
type: SiteQuality
SIO_000300: 7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.404e0

MQ
type: SiteQuality
SIO_000300: 5.798e1

QD
type: SiteQuality
SIO_000300: 1.238e1

DP
type: SiteQuality
SIO_000300: 1.620927e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6322
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200840588411888e-4
allele num: 66620
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 1.621394e6

QD
type: SiteQuality
SIO_000300: 1.175e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

GenotypeQuality
all individuals: 1184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48441
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0