17-28804461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804461
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804461
    reference: chr 17
allele count: 1
allele frequency: 8.553588230262596e-6
allele num: 116910
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.10G>A
  hgvsp: ENSP00000225724.5:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.21G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.27G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.10G>A
  hgvsp: ENSP00000465115.1:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.10G>A
  hgvsp: ENSP00000438330.2:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.10G>A
  hgvsp: ENSP00000396977.2:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.2G>A
  hgvsp: ENST00000414833.2:c.2G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-202G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.10G>A
  hgvsp: ENSP00000414441.2:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15135
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly4Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-28804462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804462
    reference: chr 17
allele count: 1
allele frequency: 8.548615979072987e-6
allele num: 116978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.28G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-201G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.11G>A
  hgvsp: ENSP00000438330.2:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.11G>A
  hgvsp: ENSP00000414441.2:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.11G>A
  hgvsp: ENSP00000465115.1:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.22G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.11G>A
  hgvsp: ENSP00000396977.2:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.11G>A
  hgvsp: ENSP00000225724.5:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.3G>A
  hgvsp: ENSP00000414956.2:p.Gly2Arg
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly4Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

17-28804464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804464
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804464
    reference: chr 17
allele count: 7
allele frequency: 5.987716627033685e-5
allele num: 116906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.30A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.13A>G
  hgvsp: ENSP00000396977.2:p.Thr5Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.13A>G
  hgvsp: ENSP00000465115.1:p.Thr5Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.13A>G
  hgvsp: ENSP00000225724.5:p.Thr5Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.13A>G
  hgvsp: ENSP00000438330.2:p.Thr5Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.24A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.13A>G
  hgvsp: ENSP00000414441.2:p.Thr5Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.5A>G
  hgvsp: ENST00000414833.2:c.5A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-199A>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr5Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/17-28804465-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804465
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804465
    reference: chr 17
allele count: 1
allele frequency: 8.551101381857983e-6
allele num: 116944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.14C>A
  hgvsp: ENSP00000414441.2:p.Thr5Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.14C>A
  hgvsp: ENSP00000225724.5:p.Thr5Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.31C>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.14C>A
  hgvsp: ENSP00000438330.2:p.Thr5Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-198C>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.6C>A
  hgvsp: ENSP00000414956.2:p.Pro3Thr
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.25C>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.14C>A
  hgvsp: ENSP00000465115.1:p.Thr5Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.14C>A
  hgvsp: ENSP00000396977.2:p.Thr5Asn
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34752
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr5Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-28804465-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804465
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804465
    reference: chr 17
allele count: 1
allele frequency: 8.551101381857983e-6
allele num: 116944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-198C>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.14C>G
  hgvsp: ENSP00000414441.2:p.Thr5Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.6C>G
  hgvsp: ENSP00000414956.2:p.Pro3Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.14C>G
  hgvsp: ENSP00000465115.1:p.Thr5Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.14C>G
  hgvsp: ENSP00000396977.2:p.Thr5Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.14C>G
  hgvsp: ENSP00000438330.2:p.Thr5Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.14C>G
  hgvsp: ENSP00000225724.5:p.Thr5Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.31C>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.25C>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15259
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr5Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

17-28804467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804467
    reference: chr 17
allele count: 6
allele frequency: 5.127416294928986e-5
allele num: 117018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.16A>G
  hgvsp: ENSP00000414441.2:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.16A>G
  hgvsp: ENSP00000396977.2:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.16A>G
  hgvsp: ENSP00000225724.5:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.27A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-196A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.16A>G
  hgvsp: ENSP00000465115.1:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.16A>G
  hgvsp: ENSP00000438330.2:p.Ser6Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.33A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.8A>G
  hgvsp: ENST00000414833.2:c.8A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser6Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-28804468-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804468
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804468
    reference: chr 17
allele count: 4
allele frequency: 3.420850081245189e-5
allele num: 116930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.9G>T
  hgvsp: ENSP00000414956.2:p.Ala4Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.17G>T
  hgvsp: ENSP00000414441.2:p.Ser6Ile
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.28G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.17G>T
  hgvsp: ENSP00000396977.2:p.Ser6Ile
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-195G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.17G>T
  hgvsp: ENSP00000465115.1:p.Ser6Ile
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.17G>T
  hgvsp: ENSP00000225724.5:p.Ser6Ile
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.34G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.17G>T
  hgvsp: ENSP00000438330.2:p.Ser6Ile
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34579
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ser6Ile
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-28804474-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804474
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804473
    reference: chr 17
allele count: 2
allele frequency: 1.715207025487977e-5
allele num: 116604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.41delC
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.24delC
  hgvsp: ENSP00000438330.2:p.Trp9GlyfsTer17
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.35delC
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.24delC
  hgvsp: ENSP00000465115.1:p.Trp9GlyfsTer17
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.24delC
  hgvsp: ENSP00000396977.2:p.Trp9GlyfsTer17
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.16delC
  hgvsp: ENSP00000414956.2:p.Thr6MetfsTer4
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.24delC
  hgvsp: ENSP00000414441.2:p.Trp9GlyfsTer17
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.24delC
  hgvsp: ENSP00000225724.5:p.Trp9GlyfsTer17
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-188delC
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp9GlyfsTer17
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: AC
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

17-28804475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804475
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804475
    reference: chr 17
allele count: 2
allele frequency: 1.71588393761046e-5
allele num: 116558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.24C>T
  hgvsp: ENST00000581721.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-188C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.16C>T
  hgvsp: ENSP00000414956.2:p.Thr6Ile
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.24C>T
  hgvsp: ENST00000451249.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.41C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.24C>T
  hgvsp: ENST00000225724.5:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.24C>T
  hgvsp: ENST00000427274.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.24C>T
  hgvsp: ENST00000537788.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.35C>T
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr6Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

17-28804479-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804479
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804479
    reference: chr 17
allele count: 1
allele frequency: 8.608815426997244e-6
allele num: 116160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.28G>C
  hgvsp: ENSP00000465115.1:p.Glu10Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.20G>C
  hgvsp: ENST00000414833.2:c.20G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.28G>C
  hgvsp: ENSP00000438330.2:p.Glu10Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.45G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.39G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.28G>C
  hgvsp: ENSP00000225724.5:p.Glu10Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.28G>C
  hgvsp: ENSP00000414441.2:p.Glu10Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.28G>C
  hgvsp: ENSP00000396977.2:p.Glu10Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-184G>C
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15527
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43764
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu10Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

17-28804493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804493
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804493
    reference: chr 17
allele count: 1
allele frequency: 8.739578053171594e-6
allele num: 114422
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+11G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.34G>A
  hgvsp: ENSP00000414956.2:p.Arg12Lys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-170G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+11G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+11G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+11G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+11G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+11G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+11G>A
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30269
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg12Lys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

17-28804505-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804505
    reference: chr 17
allele count: 1
allele frequency: 8.924905842243364e-6
allele num: 112046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+23G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+23G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+1G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+1G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+23G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+23G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+23G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+23G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+23G>C
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8326
  bin: 2.25e1
  variant carriers: 0
hgvs: c.45+1G>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

17-28804506-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804506
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804506
    reference: chr 17
allele count: 1
allele frequency: 8.946304281701229e-6
allele num: 111778
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+2T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+2T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+24T>C
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25473
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
hgvs: c.45+2T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

17-28804508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804508
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804508
    reference: chr 17
allele count: 108
allele frequency: 9.708563312417972e-4
allele num: 111242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+26C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+26C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+26C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+26C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+4C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+26C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+26C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+4C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+26C>T
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24619
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8429
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
hgvs: c.45+4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-28804509-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804509
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804509
    reference: chr 17
allele count: 1
allele frequency: 9.009171336420476e-6
allele num: 110998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+27G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+27G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+27G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+27G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+5G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+27G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+27G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+5G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+27G>T
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 3.25e1
  variant carriers: 0
hgvs: c.45+5G>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-28804512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804512
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804512
    reference: chr 17
allele count: 1
allele frequency: 9.052886965653346e-6
allele num: 110462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+8C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+30C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+30C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+30C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+30C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+30C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+30C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+8C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+30C>T
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
hgvs: c.45+8C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

17-28804517-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804517
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804517
    reference: chr 17
allele count: 1
allele frequency: 9.152815406018891e-6
allele num: 109256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+13A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+35A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+35A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+13A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+35A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+35A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+35A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+35A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+35A>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18380
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

17-28804520-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804520
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804520
    reference: chr 17
allele count: 3
allele frequency: 2.752748160246646e-5
allele num: 108982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+38G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+38G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+38G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+38G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+38G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+16G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+38G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+38G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+16G>T
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14359
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-28804522-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804522
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804522
    reference: chr 17
allele count: 1
allele frequency: 9.268184177355972e-6
allele num: 107896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+40G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+18G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+40G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+40G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+40G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+40G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+18G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+40G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+40G>C
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-28804526-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804526
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804526
    reference: chr 17
allele count: 1
allele frequency: 9.316538719534919e-6
allele num: 107336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+44G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+44G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+44G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+44G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+44G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+44G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+22G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+44G>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+22G>C
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

17-28804527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804527
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804527
    reference: chr 17
allele count: 1
allele frequency: 9.322966194924577e-6
allele num: 107262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+23G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+23G>A
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-28804539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804539
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804539
    reference: chr 17
allele count: 1
allele frequency: 9.644689633887581e-6
allele num: 103684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+57G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+57G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+57G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+35G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+57G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+57G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+57G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+35G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+57G>A
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20822
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-28804546-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804546
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804546
    reference: chr 17
allele count: 1
allele frequency: 9.932261973341809e-6
allele num: 100682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+42C>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+64C>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+64C>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+64C>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+42C>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+64C>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+64C>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+64C>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+64C>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16084
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-28804548-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28804548
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28804547
    reference: chr 17
allele count: 1
allele frequency: 9.978645698205839e-6
allele num: 100214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.42+69delG
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.31+69delG
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.31+69delG
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.45+47delG
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.48+69delG
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-159+47delG
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.31+69delG
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.31+69delG
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.31+69delG
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20114
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: TG
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-28808113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808113
    reference: chr 17
allele count: 192
allele frequency: 1.621375128781098e-3
allele num: 118418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-158-48G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.43-48G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.32-48G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.32-48G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.32-48G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.32-48G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1919G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.32-48G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.49-48G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.46-48G>A
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 11698
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 1.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-28808135-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808135
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808135
    reference: chr 17
allele count: 6
allele frequency: 5.023526850751017e-5
allele num: 119438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.43-26T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.32-26T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1941T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-158-26T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.49-26T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.46-26T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.32-26T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.32-26T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.32-26T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.32-26T>C
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-28808137-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808137
    reference: chr 17
allele count: 2
allele frequency: 1.672017121455324e-5
allele num: 119616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.32-24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1943T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.32-24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-158-24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.49-24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.46-24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.32-24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.43-24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.32-24T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.32-24T>C
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24666
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-28808137-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808134
    reference: chr 17
allele count: 2
allele frequency: 1.672017121455324e-5
allele num: 119616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.32-18_32-16delGTT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.32-18_32-16delGTT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.32-18_32-16delGTT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.46-18_46-16delGTT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.32-18_32-16delGTT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.43-18_43-16delGTT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1949_1951delGTT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.32-18_32-16delGTT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.49-18_49-16delGTT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-158-18_-158-16delGTT
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TTTG
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-28808142-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808142
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808142
    reference: chr 17
allele count: 2
allele frequency: 1.665306666222585e-5
allele num: 120098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1948T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.43-19T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.32-19T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.32-19T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.46-19T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.49-19T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.32-19T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.32-19T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-158-19T>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.32-19T>C
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-28808153-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808153
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808153
    reference: chr 17
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.46-8T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1959T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-158-8T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.32-8T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.32-8T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.43-8T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.32-8T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.32-8T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.49-8T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.32-8T>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 7.75e1
  variant carriers: 0
hgvs: c.32-8T>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-28808161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808161
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808161
    reference: chr 17
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.32A>G
  hgvsp: ENSP00000225724.5:p.Asp11Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.32A>G
  hgvsp: ENSP00000396977.2:p.Asp11Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.46A>G
  hgvsp: ENSP00000414956.2:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.32A>G
  hgvsp: ENSP00000465115.1:p.Asp11Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.32A>G
  hgvsp: ENSP00000438330.2:p.Asp11Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.49A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-158A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.43A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.32A>G
  hgvsp: ENSP00000414441.2:p.Asp11Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1967A>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp11Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-28808161-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808161
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808161
    reference: chr 17
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-158A>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.32A>T
  hgvsp: ENSP00000438330.2:p.Asp11Val
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.32A>T
  hgvsp: ENSP00000396977.2:p.Asp11Val
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.32A>T
  hgvsp: ENSP00000465115.1:p.Asp11Val
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.49A>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.32A>T
  hgvsp: ENSP00000225724.5:p.Asp11Val
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.32A>T
  hgvsp: ENSP00000414441.2:p.Asp11Val
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.46A>T
  hgvsp: ENSP00000414956.2:p.Asp16Val
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1967A>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.43A>T
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp11Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

17-28808162-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808162
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808162
    reference: chr 17
allele count: 2
allele frequency: 1.650083329208125e-5
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.33T>A
  hgvsp: ENSP00000225724.5:p.Asp11Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.47T>A
  hgvsp: ENSP00000414956.2:p.Asp16Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.33T>A
  hgvsp: ENSP00000465115.1:p.Asp11Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.44T>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-157T>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1968T>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.33T>A
  hgvsp: ENSP00000438330.2:p.Asp11Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.33T>A
  hgvsp: ENSP00000414441.2:p.Asp11Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.33T>A
  hgvsp: ENSP00000396977.2:p.Asp11Glu
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.50T>A
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp11Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

17-28808173-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808173
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808173
    reference: chr 17
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.61A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.44A>G
  hgvsp: ENSP00000414441.2:p.Gln15Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.44A>G
  hgvsp: ENSP00000438330.2:p.Gln15Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.44A>G
  hgvsp: ENSP00000396977.2:p.Gln15Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.44A>G
  hgvsp: ENSP00000225724.5:p.Gln15Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1979A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.58A>G
  hgvsp: ENSP00000414956.2:p.Gln20Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.55A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.44A>G
  hgvsp: ENSP00000465115.1:p.Gln15Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-146A>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln15Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-28808175-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808175
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808175
    reference: chr 17
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.60G>T
  hgvsp: ENSP00000414956.2:p.Ala21Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1981G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.46G>T
  hgvsp: ENSP00000465115.1:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.46G>T
  hgvsp: ENSP00000225724.5:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.46G>T
  hgvsp: ENSP00000396977.2:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.46G>T
  hgvsp: ENSP00000438330.2:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-144G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.57G>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.46G>T
  hgvsp: ENSP00000414441.2:p.Ala16Ser
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.63G>T
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala16Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

17-28808179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808179
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808179
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.1985G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.50G>A
  hgvsp: ENSP00000465115.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-140G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.50G>A
  hgvsp: ENSP00000396977.2:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.50G>A
  hgvsp: ENSP00000414441.2:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.50G>A
  hgvsp: ENSP00000225724.5:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.64G>A
  hgvsp: ENSP00000414956.2:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.50G>A
  hgvsp: ENSP00000438330.2:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.61G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.67G>A
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg17Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

17-28808199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808199
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808199
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2005G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.70G>A
  hgvsp: ENSP00000225724.5:p.Asp24Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.81G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.70G>A
  hgvsp: ENSP00000396977.2:p.Asp24Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.87G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-120G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.70G>A
  hgvsp: ENSP00000438330.2:p.Asp24Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.84G>A
  hgvsp: ENSP00000414956.2:p.Asp29Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.70G>A
  hgvsp: ENSP00000414441.2:p.Asp24Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.70G>A
  hgvsp: ENSP00000465115.1:p.Asp24Asn
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp24Asn
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

17-28808201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808201
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.86C>T
  hgvsp: ENST00000414833.2:c.86C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-118C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.83C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.72C>T
  hgvsp: ENST00000537788.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.72C>T
  hgvsp: ENST00000225724.5:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.72C>T
  hgvsp: ENST00000427274.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2007C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.89C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.72C>T
  hgvsp: ENST00000451249.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.72C>T
  hgvsp: ENST00000581721.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp24Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-28808213-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808213
    reference: chr 17
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.84T>G
  hgvsp: ENST00000451249.2:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.84T>G
  hgvsp: ENST00000225724.5:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.84T>G
  hgvsp: ENST00000537788.2:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.98T>G
  hgvsp: ENST00000414833.2:c.98T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.84T>G
  hgvsp: ENST00000427274.2:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.84T>G
  hgvsp: ENST00000581721.1:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2019T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-106T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.101T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.95T>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val28Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-28808225-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808225
    reference: chr 17
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.96A>G
  hgvsp: ENST00000225724.5:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.96A>G
  hgvsp: ENST00000427274.2:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2031A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.96A>G
  hgvsp: ENST00000451249.2:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-94A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.96A>G
  hgvsp: ENST00000581721.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.96A>G
  hgvsp: ENST00000537788.2:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.110A>G
  hgvsp: ENST00000414833.2:c.110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.107A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.113A>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys32Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

17-28808233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808233
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808233
    reference: chr 17
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.104C>T
  hgvsp: ENSP00000396977.2:p.Thr35Ile
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.104C>T
  hgvsp: ENSP00000465115.1:p.Thr35Ile
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.118C>T
  hgvsp: ENSP00000414956.2:p.Thr40Ile
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.104C>T
  hgvsp: ENSP00000225724.5:p.Thr35Ile
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.104C>T
  hgvsp: ENSP00000438330.2:p.Thr35Ile
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-86C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.115C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2039C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.121C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.104C>T
  hgvsp: ENSP00000414441.2:p.Thr35Ile
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6557
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr35Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-28808236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808236
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808236
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-83G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.107G>A
  hgvsp: ENSP00000438330.2:p.Ser36Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.107G>A
  hgvsp: ENSP00000225724.5:p.Ser36Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.121G>A
  hgvsp: ENSP00000414956.2:p.Ser41Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2042G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.107G>A
  hgvsp: ENSP00000465115.1:p.Ser36Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.107G>A
  hgvsp: ENSP00000396977.2:p.Ser36Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.124G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.107G>A
  hgvsp: ENSP00000414441.2:p.Ser36Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.118G>A
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser36Asn
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-28808241-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808241
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808241
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.129A>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.112A>C
  hgvsp: ENSP00000414441.2:p.Ser38Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-78A>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.112A>C
  hgvsp: ENSP00000396977.2:p.Ser38Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.112A>C
  hgvsp: ENSP00000438330.2:p.Ser38Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.126A>C
  hgvsp: ENSP00000414956.2:p.Ser43Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.112A>C
  hgvsp: ENSP00000225724.5:p.Ser38Arg
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2047A>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.123A>C
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.112A>C
  hgvsp: ENSP00000465115.1:p.Ser38Arg
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser38Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

17-28808250-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808250
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808250
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.135A>T
  hgvsp: ENSP00000414956.2:p.Ser46Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.121A>T
  hgvsp: ENSP00000465115.1:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.121A>T
  hgvsp: ENSP00000225724.5:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.121A>T
  hgvsp: ENSP00000396977.2:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-69A>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.132A>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.121A>T
  hgvsp: ENSP00000414441.2:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2056A>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.138A>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.121A>T
  hgvsp: ENSP00000438330.2:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31845
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser41Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

17-28808253-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808253
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808253
    reference: chr 17
allele count: 13
allele frequency: 1.070840197693575e-4
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.138A>G
  hgvsp: ENSP00000414956.2:p.Thr47Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.124A>G
  hgvsp: ENSP00000225724.5:p.Thr42Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.124A>G
  hgvsp: ENSP00000465115.1:p.Thr42Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.124A>G
  hgvsp: ENSP00000414441.2:p.Thr42Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.124A>G
  hgvsp: ENSP00000396977.2:p.Thr42Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.141A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.124A>G
  hgvsp: ENSP00000438330.2:p.Thr42Ala
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.135A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2059A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-66A>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr42Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

17-28808256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808256
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.127C>T
  hgvsp: ENSP00000396977.2:p.Arg43Ter
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.127C>T
  hgvsp: ENSP00000225724.5:p.Arg43Ter
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2062C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.127C>T
  hgvsp: ENSP00000414441.2:p.Arg43Ter
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-63C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.141C>T
  hgvsp: ENSP00000414956.2:p.Arg48Ter
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.127C>T
  hgvsp: ENSP00000438330.2:p.Arg43Ter
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.127C>T
  hgvsp: ENSP00000465115.1:p.Arg43Ter
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.144C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.138C>T
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6555
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg43Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

17-28808260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808260
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808260
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.131A>G
  hgvsp: ENSP00000438330.2:p.Asp44Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.131A>G
  hgvsp: ENSP00000396977.2:p.Asp44Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.148A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.145A>G
  hgvsp: ENSP00000414956.2:p.Asp49Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.131A>G
  hgvsp: ENSP00000465115.1:p.Asp44Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.131A>G
  hgvsp: ENSP00000225724.5:p.Asp44Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2066A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.142A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-59A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.131A>G
  hgvsp: ENSP00000414441.2:p.Asp44Gly
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp44Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-28808268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808268
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808268
    reference: chr 17
allele count: 4
allele frequency: 3.295055768818887e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-51C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.150C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2074C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.139C>T
  hgvsp: ENSP00000438330.2:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.156C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.139C>T
  hgvsp: ENSP00000396977.2:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.139C>T
  hgvsp: ENSP00000414441.2:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.153C>T
  hgvsp: ENSP00000414956.2:p.Arg52Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.139C>T
  hgvsp: ENSP00000225724.5:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.139C>T
  hgvsp: ENSP00000465115.1:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg47Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

17-28808270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808270
    reference: chr 17
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2076C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.141C>T
  hgvsp: ENST00000225724.5:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.158C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-49C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.141C>T
  hgvsp: ENST00000537788.2:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.152C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.155C>T
  hgvsp: ENST00000414833.2:c.155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.141C>T
  hgvsp: ENST00000451249.2:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.141C>T
  hgvsp: ENST00000427274.2:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.141C>T
  hgvsp: ENST00000581721.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg47Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-28808271-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808271
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808271
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.153G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.142G>A
  hgvsp: ENSP00000396977.2:p.Asp48Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.142G>A
  hgvsp: ENSP00000465115.1:p.Asp48Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.142G>A
  hgvsp: ENSP00000414441.2:p.Asp48Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-48G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.142G>A
  hgvsp: ENSP00000225724.5:p.Asp48Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.156G>A
  hgvsp: ENSP00000414956.2:p.Asp53Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2077G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.142G>A
  hgvsp: ENSP00000438330.2:p.Asp48Asn
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.159G>A
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp48Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-28808278-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808278
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808278
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2084A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.146+3A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.149A>G
  hgvsp: ENSP00000438330.2:p.Tyr50Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.146+3A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.163A>G
  hgvsp: ENSP00000414956.2:p.Tyr55Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.160A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.149A>G
  hgvsp: ENSP00000225724.5:p.Tyr50Cys
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-44+3A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.163+3A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.149A>G
  hgvsp: ENSP00000465115.1:p.Tyr50Cys
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr50Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-28808280-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808280
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808280
    reference: chr 17
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.151A>G
  hgvsp: ENSP00000438330.2:p.Arg51Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.146+5A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.151A>G
  hgvsp: ENSP00000465115.1:p.Ser51Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.165A>G
  hgvsp: ENSP00000414956.2:p.Ser56Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.162A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.151A>G
  hgvsp: ENSP00000225724.5:p.Ser51Gly
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.146+5A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.163+5A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2086A>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-44+5A>G
  variant of: http://identifiers.org/hgnc/4430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser51Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-28808307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808307
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808307
    reference: chr 17
allele count: 16
allele frequency: 1.319326483830005e-4
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.163+26C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.152+26C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-44+32C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.146+32C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.163+32C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.166+26C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2113C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.146+32C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.152+26C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.152+26C>T
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-28808313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808313
    reference: chr 17
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.163+32C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.163+38C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.146+38C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-44+38C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.152+32C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.166+32C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.146+38C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.152+32C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2119C>T
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.152+32C>T
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-28808315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808315
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808315
    reference: chr 17
allele count: 54
allele frequency: 4.457284358233595e-4
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.163+40G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.152+34G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-44+40G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.163+34G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.152+34G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.146+40G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.146+40G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.152+34G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2121G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.166+34G>A
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14525
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-28808317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808317
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808317
    reference: chr 17
allele count: 11
allele frequency: 9.082652134423252e-5
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2123G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.152+36G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.163+36G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.152+36G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.152+36G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.146+42G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-44+42G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.166+36G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.163+42G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.146+42G>A
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-28808317-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808317
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808318
    reference: chr 17
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2128dupT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.152+41dupT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.163+47dupT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.166+41dupT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.146+47dupT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.146+47dupT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.163+41dupT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.152+41dupT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-44+47dupT
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.152+41dupT
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

17-28808319-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808319
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808319
    reference: chr 17
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2125T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.152+38T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.166+38T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.163+38T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.163+44T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.152+38T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-44+44T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.146+44T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.146+44T>G
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.152+38T>G
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-28808326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28808326
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 28808326
    reference: chr 17
allele count: 5
allele frequency: 4.145524491758697e-5
allele num: 120612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414441
  ensembl transcript: ENST00000451249
  gene symbol: GOSR1
  hgvsc: ENST00000451249.2:c.146+51G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000225724
  ensembl transcript: ENST00000225724
  gene symbol: GOSR1
  hgvsc: ENST00000225724.5:c.152+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000396977
  ensembl transcript: ENST00000427274
  gene symbol: GOSR1
  hgvsc: ENST00000427274.2:c.146+51G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000438330
  ensembl transcript: ENST00000537788
  gene symbol: GOSR1
  hgvsc: ENST00000537788.2:c.152+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000579905
  gene symbol: GOSR1
  hgvsc: ENST00000579905.1:n.2132G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000462638
  ensembl transcript: ENST00000467337
  gene symbol: GOSR1
  hgvsc: ENST00000467337.2:c.-44+51G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000467635
  gene symbol: GOSR1
  hgvsc: ENST00000467635.2:n.163+51G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl transcript: ENST00000491489
  gene symbol: GOSR1
  hgvsc: ENST00000491489.2:n.163+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000414956
  ensembl transcript: ENST00000414833
  gene symbol: GOSR1
  hgvsc: ENST00000414833.2:c.166+45G>A
  variant of: http://identifiers.org/hgnc/4430
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108587
  ensembl protein: ENSP00000465115
  ensembl transcript: ENST00000581721
  gene symbol: GOSR1
  hgvsc: ENST00000581721.1:c.152+45G>A
  variant of: http://identifiers.org/hgnc/4430
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13682
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

19-40360896-A-ACAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360896
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360899
    reference: chr 19
allele count: 3
allele frequency: 2.47827379968939e-5
allele num: 121052
alternate allele: ACAG
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15509_15511dupCTG
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15509
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro5170_Val5171insAla
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8642
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

19-40360900-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360900
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360900
    reference: chr 19
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15508C>A
  hgvsp: ENSP00000221347.5:p.Pro5170Thr
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15506
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro5170Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8642
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-40360903-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360903
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360903
    reference: chr 19
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15505A>C
  hgvsp: ENSP00000221347.5:p.Ile5169Leu
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile5169Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66432
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

19-40360906-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360906
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360906
    reference: chr 19
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15502T>A
  hgvsp: ENSP00000221347.5:p.Cys5168Ser
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 230
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31687
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 537
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys5168Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-40360909-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360909
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360909
    reference: chr 19
allele count: 4
allele frequency: 3.304965710980749e-5
allele num: 121030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15499G>T
  hgvsp: ENSP00000221347.5:p.Val5167Phe
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1402
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 1920
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  variant carriers: 0
hgvs: p.Val5167Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/19-40360911-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360911
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360911
    reference: chr 19
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15497G>T
  hgvsp: ENSP00000221347.5:p.Gly5166Val
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly5166Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10380
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

19-40360912-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360912
    reference: chr 19
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15496G>C
  hgvsp: ENSP00000221347.5:p.Gly5166Arg
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly5166Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10380
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

19-40360912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360912
    reference: chr 19
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15496G>A
  hgvsp: ENSP00000221347.5:p.Gly5166Ser
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly5166Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66394
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-40360914-T-TTTACATGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360914
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360963
    reference: chr 19
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: TTTACATGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsp: ENSP00000221347.5:p.Gln5165LeufsTer3
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln5165LeufsTer3
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

19-40360928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360928
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360928
    reference: chr 19
allele count: 17514
allele frequency: 1.447749103113066e-1
allele num: 120974
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15480C>T
  hgvsp: ENST00000221347.6:c.15480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.25e1
  variant carriers: 900
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 22960
  bin: 2.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 6.75e1
  variant carriers: 1104
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 1168
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.75e1
  variant carriers: 1180
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 3.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 310
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 1032
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 968
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 9.75e1
  variant carriers: 5762
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 1190
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 848
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 17139
  bin: 9.75e1
  variant carriers: 16052
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31213
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 7.75e1
  variant carriers: 12
hgvs: p.Arg5160Arg
num of homozygotes: 1382
population: European (Finnish)
  type: Population
  allele count: 813
  allele frequency: 1.229210765043846e-1
  allele num: 6614
  num of homozygotes: 48
population: Latino
  type: Population
  allele count: 2314
  allele frequency: 2.00138384362567e-1
  allele num: 11562
  num of homozygotes: 232
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD

19-40360929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360929
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360929
    reference: chr 19
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15479G>A
  hgvsp: ENSP00000221347.5:p.Arg5160His
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg5160His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10372
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

19-40360930-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40360930
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 40360930
    reference: chr 19
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090920
  ensembl protein: ENSP00000221347
  ensembl transcript: ENST00000221347
  gene symbol: FCGBP
  hgvsc: ENST00000221347.6:c.15478C>G
  hgvsp: ENSP00000221347.5:p.Arg5160Gly
  variant of: http://identifiers.org/hgnc/13572
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg5160Gly
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45035
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533601202343343e-5
allele num: 65206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.889e0

MQRankSum
type: SiteQuality
SIO_000300: -9.58e-1

FS
type: SiteQuality
SIO_000300: 6.239e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 6.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.316e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.511862e6

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45216
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5220
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2696
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.401229035974907e-5
allele num: 15622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65250
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -2.185e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 9.77e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 1.176e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

DP
type: SiteQuality
SIO_000300: 1.512854e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.272e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5218
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2701
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.073191672032625e-4
allele num: 65226
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

DP
type: SiteQuality
SIO_000300: 1.512177e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.2609e1

QD
type: SiteQuality
SIO_000300: 1.057e1

VQSLOD
type: SiteQuality
SIO_000300: -1.634e0

GenotypeQuality
all individuals: 960
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53298994358597e-5
allele num: 65232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 4.121e0

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.579e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 7.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 1.512682e6

GenotypeQuality
all individuals: 429
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2780
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 366
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53298994358597e-5
allele num: 65232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

QD
type: SiteQuality
SIO_000300: 7.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.512682e6

FS
type: SiteQuality
SIO_000300: 4.121e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: -9.579e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
all individuals: 430
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.130456105934282e-5
allele num: 65248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.325581395348837e-4
allele num: 8600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

DP
type: SiteQuality
SIO_000300: 1.513163e6

GenotypeQuality
all individuals: 2849
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.016260162601626e-4
allele num: 9840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15642
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.882572392965002e-5
allele num: 11258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.067390570841386e-5
allele num: 65202
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.181e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.512142e6

FS
type: SiteQuality
SIO_000300: 5.218e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.339e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.283202874374438e-4
allele num: 15586
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 1.507707e6

QD
type: SiteQuality
SIO_000300: 1.629e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

MQ
type: SiteQuality
SIO_000300: 6.028e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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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: 1.25e1
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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

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537846399901578e-5
allele num: 65026
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.837e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 3.035e0

DP
type: SiteQuality
SIO_000300: 1.507203e6

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54206760424377e-5
allele num: 64848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15456
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.566e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.501342e6

FS
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 5.81e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.86219739292365e-4
allele num: 5370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15032
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.062e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.707e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.263e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 5.75e0

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

DP
type: SiteQuality
SIO_000300: 1.465455e6

GenotypeQuality
all individuals: 35552
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
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variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592204566442697e-5
allele num: 62806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.18e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

DP
type: SiteQuality
SIO_000300: 1.404963e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 4335
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variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595812587769692e-5
allele num: 62664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.315e0

DP
type: SiteQuality
SIO_000300: 1.396597e6

GenotypeQuality
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 108

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 90
allele frequency: 1.441660793233805e-3
allele num: 62428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.110083256244218e-3
allele num: 10810
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.157497303128371e-4
allele num: 9270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.778163633838033e-4
allele num: 14398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

QD
type: SiteQuality
SIO_000300: 1.183e1

FS
type: SiteQuality
SIO_000300: 1.329e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

DP
type: SiteQuality
SIO_000300: 1.388085e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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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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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.6061676839062e-5
allele num: 62260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.374625e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.598e0

VQSLOD
type: SiteQuality
SIO_000300: -9.147e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 2.08e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2628
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1386
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614569878584345e-5
allele num: 61936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.788e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.39e-1

ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ReadPosRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.35742e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61320
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.21153380179307e-4
allele num: 8254
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14174
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10578
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

MQRankSum
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ReadPosRankSum
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.094091903719913e-4
allele num: 9140
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.635055591890124e-5
allele num: 61160
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 760
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 9.498480243161094e-5
allele num: 10528
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 14150
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FS
type: SiteQuality
SIO_000300: 1.1101e1

ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9076
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60604
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4922
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.160246312473149e-5
allele num: 13966
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.457e1

DP
type: SiteQuality
SIO_000300: 1.234994e6

BaseQRankSum
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SIO_000300: 4.12e-1

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13852
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.657879903179814e-5
allele num: 60318
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8154
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4894
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Latino
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.211306e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 1.225790634959549e-4
allele num: 8158
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African
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Latino
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MQ
type: SiteQuality
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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South Asian
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East Asian
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VQSLOD
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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FS
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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African
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Latino
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South Asian
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East Asian
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Other
type: Population
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DP
type: SiteQuality
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FS
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

GenotypeQuality
all individuals: 1099
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7406
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2531
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15481
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6685
bin: 9.75e1
variant carriers: 188

GenotypeQuality
all individuals: 2113
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4342
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3898
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2932
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 143
allele frequency: 2.20440881763527e-3
allele num: 64870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.216915120170368e-3
allele num: 6574
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 7.916089451810805e-4
allele num: 10106
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.398311048557354e-4
allele num: 11368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 1.722017220172202e-3
allele num: 16260
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 1.147e0

DP
type: SiteQuality
SIO_000300: 1.660313e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.165e0

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 292
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6555
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 867
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28256
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4196
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.052875809012089e-5
allele num: 65512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.741258741258741e-5
allele num: 11440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.222045704509349e-4
allele num: 16366
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.768684e6

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

QD
type: SiteQuality
SIO_000300: 1.57e1

GenotypeQuality
all individuals: 472
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6544
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
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: 1
allele frequency: 1.523879186858066e-5
allele num: 65622
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.777964e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

FS
type: SiteQuality
SIO_000300: 3.95e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.049e0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.762e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6544
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
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: 2
allele frequency: 3.047758373716132e-5
allele num: 65622
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.762e1

DP
type: SiteQuality
SIO_000300: 1.777964e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.049e0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 3.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

GenotypeQuality
all individuals: 293
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2730
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6544
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1507
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.218917601170161e-4
allele num: 16408
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

DP
type: SiteQuality
SIO_000300: 1.79427e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

QD
type: SiteQuality
SIO_000300: 1.433e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

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

GenotypeQuality
all individuals: 2767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31390
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1178
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 10272
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.636e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.017e-1

DP
type: SiteQuality
SIO_000300: 1.812705e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.31e0

QD
type: SiteQuality
SIO_000300: 1.912e1

GenotypeDepth
all individuals: 610
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6556
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4315
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
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: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.67e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.089e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 9.817e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.818167e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

GenotypeDepth
all individuals: 132
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6556
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4315
bin: 7.75e1
variant carriers: 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: 10342
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: 16492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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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 frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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SIO_000300: 1.0e-4

MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 8.37e-1

QD
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BaseQRankSum
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SIO_000300: 6.45e0

FS
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SIO_000300: 9.817e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Latino
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Other
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6614
num of homozygotes: 0

Latino
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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: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

African
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993946114424431e-5
allele num: 66734
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

FS
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SIO_000300: 2.267e0

MQRankSum
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SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

VQSLOD
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SIO_000300: 9.28e-1

QD
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SIO_000300: 1.322e1

DP
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SIO_000300: 1.822327e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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South Asian
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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SIO_000300: -5.12e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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FS
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SIO_000300: 4.54e-1

VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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SIO_000300: 1.81e0

InbreedingCoeff
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SIO_000300: 0.0e0

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

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele count: 0
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num of homozygotes: 0

FS
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SIO_000300: 7.15e-1

MQ
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SIO_000300: 5.98e1

BaseQRankSum
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SIO_000300: -4.04e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -7.77e-1

QD
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-3

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.822263e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.42e0

QD
type: SiteQuality
SIO_000300: 1.057e1

GenotypeQuality
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variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 13
allele frequency: 1.502195516524151e-3
allele num: 8654
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

European (Finnish)
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European (Non-Finnish)
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Other
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African
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East Asian
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South Asian
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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DP
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QD
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MQRankSum
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InbreedingCoeff
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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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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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bin: 9.75e1
variant carriers: 4

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 4
allele frequency: 5.994485073732166e-5
allele num: 66728
num of homozygotes: 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: 16508
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: 1.822483e6

QD
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SIO_000300: 1.217e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 1.911e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
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variant carriers: 0

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

Other
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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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
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

FS
type: SiteQuality
SIO_000300: 6.58e-1

DP
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VQSLOD
type: SiteQuality
SIO_000300: 9.55e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 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 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 count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 1.9e0

ClippingRankSum
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SIO_000300: -1.904e0

MQ
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SIO_000300: 5.904e1

DP
type: SiteQuality
SIO_000300: 1.822221e6

BaseQRankSum
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SIO_000300: -3.155e0

VQSLOD
type: SiteQuality
SIO_000300: -6.656e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 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: 66728
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

DP
type: SiteQuality
SIO_000300: 1.821935e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.922e0

QD
type: SiteQuality
SIO_000300: 1.668e1

MQRankSum
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SIO_000300: 3.35e-1

DP
type: SiteQuality
SIO_000300: 1.82175e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.046e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 16

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: 7
allele frequency: 1.050042001680067e-4
allele num: 66664
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.91323885240235e-4
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 16492
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.316e1

FS
type: SiteQuality
SIO_000300: 8.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

BaseQRankSum
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SIO_000300: -2.473e0

DP
type: SiteQuality
SIO_000300: 1.817349e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.173e0

FS
type: SiteQuality
SIO_000300: 1.6819e1

DP
type: SiteQuality
SIO_000300: 1.811288e6

BaseQRankSum
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SIO_000300: -4.475e0

QD
type: SiteQuality
SIO_000300: 1.379e1

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2754
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variant carriers: 0

African
type: Population
allele count: 53
allele frequency: 5.146630413672558e-3
allele num: 10298
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.810557e6

BaseQRankSum
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SIO_000300: -3.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

InbreedingCoeff
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SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 2.216e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.329e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.511944360447536e-3
allele num: 6614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
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FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

VQSLOD
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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: 11570
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.252e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

DP
type: SiteQuality
SIO_000300: 1.806438e6

VQSLOD
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SIO_000300: 4.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
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: 16488
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 2.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.959e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.792294e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -4.303e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 26730
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
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South Asian
type: Population
allele count: 5
allele frequency: 3.035454103933948e-4
allele num: 16472
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.983e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

DP
type: SiteQuality
SIO_000300: 1.785286e6

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

FS
type: SiteQuality
SIO_000300: 1.758e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515624059244988e-5
allele num: 66436
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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African
type: Population
allele count: 0
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allele num: 10374
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
type: Population
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QD
type: SiteQuality
SIO_000300: 1.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.34e-1

DP
type: SiteQuality
SIO_000300: 2.364663e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.862e0

VQSLOD
type: SiteQuality
SIO_000300: -9.317e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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African
type: Population
allele count: 1
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allele num: 10376
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South Asian
type: Population
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Latino
type: Population
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Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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European (Finnish)
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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South Asian
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African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
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allele num: 66416
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.904e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.364507e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.69e0

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
type: SiteQuality
SIO_000300: -2.002e-1

European (Non-Finnish)
type: Population
allele count: 0
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South Asian
type: Population
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allele num: 16512
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Latino
type: Population
allele count: 0
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African
type: Population
allele count: 4
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allele num: 10378
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Other
type: Population
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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QD
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.773e0

East Asian
type: Population
allele count: 0
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Latino
type: Population
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South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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European (Non-Finnish)
type: Population
allele count: 0
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Other
type: Population
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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Other
type: Population
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East Asian
type: Population
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 66394
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.012e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
type: SiteQuality
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European (Finnish)
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East Asian
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Latino
type: Population
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Other
type: Population
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African
type: Population
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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African
type: Population
allele count: 0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
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Latino
type: Population
allele count: 0
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allele num: 11572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 4.843e1

MQRankSum
type: SiteQuality
SIO_000300: -2.637e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

FS
type: SiteQuality
SIO_000300: 7.404e0

QD
type: SiteQuality
SIO_000300: 6.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 2.364206e6

VQSLOD
type: SiteQuality
SIO_000300: -1.102e0

European (Non-Finnish)
type: Population
allele count: 10083
allele frequency: 1.519256268081003e-1
allele num: 66368
num of homozygotes: 785

South Asian
type: Population
allele count: 2378
allele frequency: 1.440164728682171e-1
allele num: 16512
num of homozygotes: 201

East Asian
type: Population
allele count: 278
allele frequency: 3.216847951862994e-2
allele num: 8642
num of homozygotes: 2

African
type: Population
allele count: 1518
allele frequency: 1.462709577953363e-1
allele num: 10378
num of homozygotes: 105

Other
type: Population
allele count: 130
allele frequency: 1.447661469933185e-1
allele num: 898
num of homozygotes: 9

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.608e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

DP
type: SiteQuality
SIO_000300: 2.723329e6

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508523155830442e-5
allele num: 66290
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.726887e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.161e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

FS
type: SiteQuality
SIO_000300: 8.818e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0